A map of human genome variation from population-scale sequencing.

paper Cited Public

Authors: 1000 Genomes Project Consortium; Abecasis, Gonçalo R; Altshuler, David; Auton, Adam; Brooks, Lisa D; Durbin, Richard M; Gibbs, Richard A; Hurles, Matt E; McVean, Gil A
Year: 2010
Journal: Nature
PMID: 20981092
DOI: 10.1038/nature09534
PMCID: PMC3042601

Figure 1

Properties of the variants founda, Venn diagrams showing the numbers of SNPs identified in each pilot project in each population or analysis panel, subdivided according to whether the SNP was present in dbSNP release 129 (“Known”) or not (“Novel”). Exon analysis panel AFR is YRI+LWK, ASN is CHB+CHD+JPT, and EUR is CEU+TSI. Note that the scale for the exon project column is much larger than for the other pilots. b, The number of variants per Mb at different allele frequencies divided by the expectation under the neutral coalescent (1/i, where i is the variant allele count), thus giving an estimate of theta per megabase. Blue: low coverage SNPs, red: low coverage indels, black: low coverage genotyped large deletions, green: exon SNPs. The spikes at the right ends of the lines correspond to excess variants for which all samples differed from the reference (approximately 1 per 30 kb), consistent with errors in the reference sequence. c, Fraction of variants in each allele frequency class that were novel. Novelty was determined by comparison to dbSNP release 129 for SNPs and small indels, dbVar (June 2010) for deletions, and two published genomes10, 11 for larger indels. d, Size distribution and novelty of variants discovered in the low coverage project. SNPs are shown in blue, deletions with respect to the reference sequence in red, and insertions or duplications with respect to the reference in green. The fraction of variants in each size bin that were novel is shown by the purple line, and is defined relative to dbSNP (SNPs and indels), dbVar (deletions, duplications, mobile element insertions), dbRIP and other studies49 (mobile element insertions), Venter and Watson genomes10, 11 (indels and deletions), and indels from split capillary reads50 (indels and deletions). To account for ambiguous placement of many indels, discovered indels were deemed to match known indels if they were within 25 bp of a known indel of the same size. To account for imprecise knowledge of the location of most deletions and duplications, discovered variants were deemed to match known variants if they had > 50% reciprocal overlap.

LLM interpretation

This figure consists of four panels analyzing genetic variants across different projects and populations. Panel **a** uses Venn diagrams to show the overlap of known and novel SNPs among CEU, YRI, and other populations across Trio, Low coverage, and Exon projects. Panel **b** is a line plot showing observed theta per Mb across variant allele frequencies for SNPs, indels, and deletions, while panel **c** shows the fraction of novel variants decreasing as allele frequency increases. Panel **d** is a histogram showing the size distribution of deletions (red), SNPs (blue), and insertions (green), with a purple line indicating the proportion of novel variants across size bins.

Figure 2

Variant discovery rates and genotype accuracy in the low coverage projecta, Rates of low coverage variant detection by allele frequency in CEU. Lines show the fraction of variants seen in overlapping samples in independent studies, that were also found to be polymorphic in the low coverage project (in the same overlapping samples), as a function of allele count in the 60 low coverage samples. Note that we plot power against expected allele count in 60 samples, e.g. a variant present in, say, 2 copies in an overlap of 30 samples is expected to be present 4 times in 60 samples. The crosses on the right represent the average discovery fraction for all variants having more than 10 copies in the sample. Colours correspond to: (red) HapMap II sites, excluding sites also in HapMap 3 (43 overlapping samples); (blue) exon project sites (57 overlapping samples); (green) deletions from Conrad et al.20 (60 overlapping samples; deletions were classified as “found” if there was any overlap). b, Estimated rates of discovery of variants at different frequencies in the CEU (blue), a population related to the CEU with Fst = 1% (green) and across Europe as a whole (light blue). The insert shows a cartoon of the statistical model for population history and thus allele frequencies in related populations where an ancestral population gave rise to many equally related populations, one of which (blue circle) has samples sequenced. c, SNP genotype accuracy by allele frequency in the CEU low coverage project, measured by comparison to HapMap II genotypes at sites present in both call sets, excluding sites that were also in HapMap 3. Lines represent the average accuracy of homozygote reference (red), heterozygote (green) and homozygote alternative calls (blue) as a function of the alternative allele count in the overlapping set of 43 samples, and the overall genotype error rate (grey, at bottom of plot). The inset shows the number of each genotype class as a function of alternative allele count. d, Coverage and accuracy for the low coverage and exon projects as a function of depth threshold. For 41 CEU samples sequenced in both the exon and low coverage projects, on the x axis is shown the number of non-reference SNP genotype calls at HapMap II sites not in HapMap 3 that were called in the exon project target region, and on the y axis is shown the number of these calls that were not variant (i.e., are reference homozygote and thus incorrectly were called as variant) according to HapMap II. Each point plotted corresponds to a minimum depth threshold for called sites. Grey lines show constant error rates. The exon project calls (red) were made independently per sample, whereas the low coverage calls (blue), which were only slightly less accurate, were made using LD information that combined partial information across samples and sites in an imputation-based algorithm. The additional data added from point “1” to point “0” (upper right in the figure) for the low coverage project were completely imputed.

LLM interpretation

This figure consists of four panels (a-d) analyzing variant discovery and genotype accuracy in a low-coverage sequencing project. Panel **a** uses line plots to show that detection power increases with variant allele count for HapMap II SNPs, exon project SNPs, and large deletions. Panel **b** displays the fraction of variants discovered as a function of allele frequency for three population groups, including a schematic of the population history model. Panel **c** shows genotype accuracy for reference homozygotes, heterozygotes, and alternative homozygotes across allele counts, with an inset showing genotype counts. Panel **d** is a scatter plot comparing the number of incorrect variant genotype calls to the total number of calls for the exon project (red) and low-coverage project (blue) across different depth thresholds.

Figure 3

The value of additional samples for variant discoveryThe fraction of variants present in an individual that would not have been found in a sequenced reference panel, as a function of reference panel size and the sequencing strategy. The lines represent predictions for Synonymous (Syn), Nonsynonymous (NonSyn), and Loss of function (LOF) variant classes, broken down by sequencing category: full sequencing as for exons (Full) and low coverage sequencing (LowCov). The values were calculated from observed distributions of variants of each class in 321 East Asian samples (CHB, CHD and JPT populations) in the exon data, and power to detect variants at low allele counts in the reference panel from Figure 2a.

LLM interpretation

This line graph shows the percentage of variants in a single individual not discovered as a function of the number of samples sequenced (x-axis). The data is categorized by variant class (Synonymous, Nonsynonymous, and Loss of Function) and sequencing strategy (Full vs. Low Coverage/LC). Across all categories, the fraction of undiscovered variants decreases as the reference panel size increases, with low-coverage sequencing (dashed lines) consistently resulting in a higher percentage of undiscovered variants compared to full sequencing (solid lines).

Figure 4

Imputation from the low coverage dataa, Accuracy of imputing variant genotypes using HapMap 3 sites to impute sites from the low coverage (LC) project into the trio fathers as a function of allele frequency. Accuracy of imputing genotypes from the HapMap II reference panels4 is also shown. Imputation accuracy for common variants was generally a few percent worse from the low coverage project than from HapMap, although error rates increase for less common variants. b, An example of imputation in a cis-eQTL for TIMM22, for which the original Ilumina 300K genotype data gave a weak signal30. Imputation using HapMap data made a small improvement, and imputation using low coverage haplotypes provided a much stronger signal.

LLM interpretation

**Figure a** is a line graph showing imputation accuracy on the y-axis versus minor allele frequency (0.0 to 0.5) on the x-axis for CEU and YRI populations. Accuracy increases as allele frequency increases, with HapMap II (dashed lines) generally performing slightly better than low coverage (LC, solid lines) data. **Figure b** is a Manhattan plot showing $-\log_{10}(\text{P-value})$ against the position on chromosome 17 (Mb). The 1000Genomes imputation (dark blue dots) shows a significantly stronger signal at rs1054083 compared to HapMap II imputation (light blue) and Illumina 300K genotype data (red).

Figure 5

Variation around genesa, Diversity in genes calculated from the CEU low coverage genotype calls (upper) and diversity divided by divergence between humans and rhesus macaque (lower). Within each element averaged diversity is shown for the first and last 25 base pairs, with the remaining 150 positions sampled at fixed distances across the element (elements shorter than 150 base pairs were not considered). Note that estimates of diversity will be reduced compared to the true population value due to the reduced power for rare variants, but relative values should be little affected. b, Average autosomal diversity divided by divergence, as a function of genetic distance from coding transcripts, calculated at putatively neutral sites, i.e., excluding phastcons conserved noncoding sequences and all sites in coding exons but four-fold degenerate sites. c, Numbers of SNPs showing increasingly high levels of differentiation in allele frequency between the CEU and CHB+JPT (red), CEU and YRI (green) and CHB+JPT and YRI (blue). Lines indicate synonymous variants (dashed), nonsynonymous variants (dotted) and other variants (solid). The most highly differentiated genic SNPs were enriched for nonsynonymous variants, indicating local adaptation. d, The decay of population differentiation around genic SNPs showing extreme allele frequency differences between populations (difference in frequency of at least 0.8 between populations, thinned so there is no more than one per gene considered). For all such SNPs the highest allele frequency difference in bins of 0.01 cM away from the variant was recorded and averaged.

LLM interpretation

This figure consists of four panels analyzing genetic diversity and differentiation. Panel **a** shows scatter plots with mean lines (red) of diversity and diversity/divergence across different gene regions (e.g., exons, introns), while panel **b** displays diversity/divergence as a function of genetic distance (cM) from transcription start/stop sites for YRI, CEU, and CHBJPT populations. Panel **c** is a log-linear plot showing the number of SNPs relative to the absolute difference in allele frequency for three population comparisons, categorized by variant type (non-coding, synonymous, nonsynonymous). Panel **d** shows the mean maximum frequency difference in bins as a function of genetic distance (cM) from highly differentiated SNPs for the same three population comparisons.

Figure 6

Recombinationa, Improved resolution of hotspot boundaries. The average recombination rate estimated from low coverage project data around recombination hotspots detected in HapMap II. Recombination hotspots were narrower, and in CEU (orange) and CHB+JPT (purple) more intense than previously estimated. b, The concentration of recombination in a small fraction of the genome, one line per chromosome. If recombination were uniformly distributed throughout the genome, then the lines on this figure would appear along the diagonal. Instead, most recombination occurs in a small fraction of the genome. Recombination rates in YRI (green) appeared to be less concentrated in recombination hotspots than CEU (orange) or CHB+JPT (purple). HapMap II estimates are shown in black. c, The relationship between genetic variation and recombination rates in the YRI population. The top plot shows average levels of diversity, measured as mean number of segregating sites per base, surrounding occurrences of the previously described hotspot motif 43 (CCTCCCTNNCCAC, red line) and a closely related, but not recombinogenic DNA sequence (CTTCCCTNNCCAC, green line). The lighter red and green shaded areas give 95% confidence intervals on diversity levels. The bottom plot shows estimated mean recombination rates surrounding motif occurrences, with colours defined as in the top plot.

LLM interpretation

This figure consists of three panels analyzing recombination rates across different populations. Panel **a** is a line graph showing that recombination rates peak at the hotspot center, with CEU (orange) and CHB+JPT (purple) showing higher, narrower peaks than the HapMap II estimate (black). Panel **b** uses Lorenz-style curves to show that recombination is concentrated in a small fraction of the genome, with YRI (green) showing less concentration than CEU or CHB+JPT. Panel **c** contains two line plots comparing a recombinogenic motif (red) to a non-recombinogenic sequence (green), showing that while SNP density remains similar between the two, the recombinogenic motif is associated with a significant peak in the recombination rate.

#	Section	Preview
20	Results — Overview of data generation, alignment and variant discovery — Mitochondrial and Y chromosome sequences	Deep coverage of the mitochondrial genome allowed us to manually curate sequences for 163 samples…
21	Results — Overview of data generation, alignment and variant discovery — Mitochondrial and Y chromosome sequences	The Y chromosome was sequenced at an average depth of 1.8x in the 77 males in the low coverage…
22	Results — Power to detect variants	The ability of sequencing to detect a site that is segregating in the population is dominated by two…
23	Results — Power to detect variants	Fig. 2a shows the rate of discovery of variants in the CEU samples of the low coverage project as…
24	Results — Power to detect variants	For deletions larger than 500 bp, power was approximately 40% for singletons and reached 90% for…
25	Results — Power to detect variants	In summary, low coverage shotgun sequencing provided modest power for singletons in each sample…
26	Results — Genotype accuracy	Genotypes, and, where possible, haplotypes, were inferred for all SNPs and short indels, and for…
27	Results — Genotype accuracy	The accuracy of genotypes for large deletions was assessed against previous array based analyses20…
28	Results — Genotype accuracy	For calling genotypes in the low coverage samples, the utility of using LD information in addition…
29	Results — Genotype accuracy	The accuracy and completeness of the individual genome sequences in the low coverage project could…
30	Results — Putative functional variants	An individual's genome contains many variants of functional consequence, ranging from the beneficial…
31	Results — Putative functional variants	In total, we found over 68,300 nonsynonymous SNPs, 34,161 of which were novel (Table 2). In an early…
32	Results — Putative functional variants	Overall we rediscovered 671 (1.3%) of the 50,361 coding single nucleotide variants in HGMD-DM…
33	Results — Putative functional variants	As expected, and consistent with purifying selection, putative functional variants had an allele…
34	Results — Putative functional variants	The tendency for deleterious functional variants to have lower allele frequencies has consequences…
35	Results — Application to association studies	Whole genome sequencing enables all genetic variants present in a sample set to be tested directly…
36	Results — Application to association studies	Population sequencing of large phenotyped cohorts will allow direct association tests for low…
37	Results — Application to association studies	Although the ability to impute rare variants accurately from the 1000 Genomes resource is currently…
38	Results — Application to association studies	In addition to this modest increase in the number of discoveries, testing almost all common variants…
39	Results — Application to association studies	Testing almost all common variants also allows us to examine general properties of genetic…

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Mendelian randomization facilitates identification of schizophrenia risk enhancer RNAs.	Ye L et al.	—	2026	→
Multi-omics causal inference of nuclear-encoded mitochondrial genes in autism spectrum disorder.	Lu D et al.	—	2026	→
Naturally self-reactive B cells are poised to cross the selection barrier into autoimmune germinal centers.	Yi-Dan Zhu D et al.	—	2026	→
Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype.	Uddin I et al.	—	2026	→
Overcoming extrapolation challenges of deep learning by incorporating physics in protein sequence-function modeling.	Barethiya S et al.	—	2026	→
PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.	Papanikolaou G et al.	—	2026	→
Platelet perturbation to ciprofloxacin exacerbates IBD through regulation of HLA DR on CD14⁻CD16⁺ monocytes.	Wang L et al.	—	2026	→
Postcholecystectomy cholangiocarcinoma risk alert: evidence from Mendelian randomization study and bioinformatics analysis.	Chen S et al.	—	2026	→
Protocol to perform cell-type-specific transcriptome-wide association study using scPrediXcan framework.	Zhou Y et al.	—	2026	→
Sample tracking in whole exome sequencing.	Yang X et al.	—	2026	→
Single-Cell RNA-Seq Profiling of Transposable Element Expression in Human Peripheral Blood Cells During Viral Infections.	Fateev OD et al.	—	2026	→
The gene expression landscape of disease genes.	García-González J et al.	—	2026	→
Uncovering racial and genetic disparities in FRAX performance for fracture risk assessment in postmenopausal women.	Wu Q et al.	—	2026	→
Unraveling the genetic association between obesity-related anthropometric indices and foot deformities in the European population: A two-sample Mendelian randomization study.	Cai Z et al.	—	2026	→
Whole-genome sequencing reveals Yunnan as the crossroads of east and Southeast Asia for human gene flow.	Qian X et al.	—	2026	→
A bidirectional mendelian-randomization analyses of genetically predicted circulating levels of systemic inflammatory regulators with risk of sepsis.	Lou J et al.	—	2025	→
A case of resuscitated cardiac arrest in a school-aged child with pyrophosphatase 2 deficiency.	Harris WA et al.	—	2025	→
A causal relationship between type 1 diabetes and risk of systemic sclerosis: a bidirectional two-sample Mendelian randomization study.	Huang H et al.	—	2025	→
A comprehensive review on cardiovascular and chronic kidney disease interplay, exploring biomarkers and algorithmic approaches in unraveling organ crosstalk.	Kumar P et al.	—	2025	→
Addressing Ancestral Underrepresentation in Oncobiology: The Need for Sub-Saharan African-Specific In Vitro Models.	Dos Santos CS et al.	—	2025	→
Addressing missing context in regulatory variation across primate evolution.	Housman G et al.	—	2025	→
ADHD and Differences in Brain Function as Measured by EEG: Cause or Effect?	Ahn K et al.	—	2025	→
ADIPOQ polymorphisms and haplotypes affect circulating adiponectin levels and their association with gestational hypertension and preeclampsia.	Fróes de Castro RN et al.	—	2025	→
Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing.	Day TRC et al.	—	2025	→
A genome-wide association study identifies new loci associated with response to SARS-CoV-2 mRNA-1273 vaccine in a cohort of healthy healthcare workers.	Cabrera-Serrano AJ et al.	—	2025	→
A live bacteria enzyme assay for identification of human disease mutations and drug screening.	Choe D et al.	—	2025	→
A Mendelian randomization study: Genetically predicted dopamine 4-sulfate to dopamine 3-O-sulfate ratio mediates the association between chemokine C-C motif ligand 11 and polycystic ovary syndrome.	Chen Y et al.	—	2025	→
Amino Acid Stress Response Genes Contribute to a 25-Fold Increased Risk of L-Asparaginase-Induced Hypersensitivity.	Anderson SJ et al.	—	2025	→
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.	Kolovos A et al.	—	2025	→
An Introduction to Causal Inference Methods with Multi-omics Data.	Yao M et al.	—	2025	→
An odorant receptor for a key odor constituent of ambergris.	Takase D et al.	—	2025	→
A Pipeline and Recommendations for Population and Individual Diagnostic SNP Selection in Non-Model Species.	Armstrong EE et al.	—	2025	→
A pleiotropy scan to discover new susceptibility loci for pancreatic ductal adenocarcinoma.	Giaccherini M et al.	—	2025	→
Application of an Externally Developed Algorithm to Identify Research Cases and Controls from EHR Data: Trials and Triumphs.	Garduno-Rapp NE et al.	—	2025	→
A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias.	Cheng PL et al.	—	2025	→
Association between Anti-Helicobacter pylori IgG seropositivity on coronary heart disease and potential pathogenesis: a Mendelian randomization study.	Wang J et al.	—	2025	→
Association Between Cognitive Impairment and Dysphagia: A Two-Sample Mendelian Randomization Study.	Tian Y et al.	—	2025	→
Association between <i>ACE</i> (rs4343 and rs1799752), <i>AGTR1</i> (rs5186), and <i>PAI-1</i> (rs2227631) polymorphisms in the host and the severity of Covid-19 infection.	Polat S et al.	—	2025	→
Association between mitochondrial DNA copy number and the risk of Parkinson's disease: a meta-analysis and Mendelian randomization study.	Zheng H et al.	—	2025	→
A structured coalescent model reveals deep ancestral structure shared by all modern humans.	Cousins T et al.	—	2025	→
A Systematic Review of Drug-Related InteractionsUtilizing Deep Learning and LLMs for Prediction and Mitigation.	Behrooznia S et al.	—	2025	→
Benchmarking of low coverage sequencing workflows for precision genotyping in eggplant.	Baraja-Fonseca V et al.	—	2025	→
Biallelic genome engineering to create isogenic induced pluripotent stem cells modeling Huntington's disease.	Kurasawa H et al.	—	2025	→
Blackbird: structural variant detection using synthetic and low-coverage long-reads.	Meleshko D et al.	—	2025	→
Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.	Li Z et al.	—	2025	→
Cardiovascular diseases and depression: A meta-analysis and Mendelian randomization analysis.	Zeng J et al.	—	2025	→
Case Report: A homozygous mutation in the <i>SPAG17</i> gene in a case with oligoasthenoteratozoospermic infertility.	Sethi S et al.	—	2025	→
Causal association between macrophage migration inhibitory factor and nonalcoholic fatty liver disease: A two-sample Mendelian randomization study.	Yu F et al.	—	2025	→
CAUSAL ASSOCIATION BETWEEN SEPSIS AND FIBROBLAST GROWTH FACTORS AS WELL AS THEIR RECEPTORS LEVELS: A TWO-SAMPLE MENDELIAN RANDOMIZATION STUDY.	Dai J et al.	—	2025	→
Causal effect of the 25-Hydroxyvitamin D concentration on ocular diseases: A Mendelian randomization study.	Luo X et al.	—	2025	→
Causal effects of gut microbiota, metabolites, immune cells, liposomes, and inflammatory proteins on anorexia nervosa: A mediation joint multi-omics Mendelian randomization analysis.	Li Z et al.	—	2025	→
Causal links between congenital malformations, birth weight, and neuroblastoma: insights from Mendelian randomization.	Aierken A et al.	—	2025	→
CD5 mediates the link between CD4+ CD39+ activated Treg cells and gastric cancer: A Mendelian randomization study.	Zhang Q et al.	—	2025	→
Cell-free DNA as a potential alternative to genomic DNA in genetic studies.	Zeng J et al.	—	2025	→
Characterization of blood group variants in an Omani population by comparison of whole genome sequencing and serology.	Haffener PE et al.	—	2025	→
Circulating Inflammatory Proteins Mediate the Causal Effect of Gut Microbiota on Inflammatory Bowel Disease: Bayesian and Mediated Mendelian Randomization.	Li Z et al.	—	2025	→
Combining whole genome sequencing and non-adaptive group testing for large-scale ethnicity screens.	Avraham E et al.	—	2025	→
Connecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity.	Yao S et al.	—	2025	→
Considerations on efforts needed to improve our understanding of the genetics of obesity.	Ghosh S et al.	—	2025	→
Constipation and Parkinson disease: A 2-sample bidirectional Mendelian randomization analysis.	Li H et al.	—	2025	→
C-Reactive Protein Mediates the Association Between Rheumatoid Arthritis and Immune Thrombocytopenia: An Observational and Mendelian Randomisation Study.	Yang W et al.	—	2025	→
Cross-ancestry genome-wide association study and systems-level integrative analyses implicate new risk genes and therapeutic targets for depression.	Li Y et al.	—	2025	→
Cross-tissue transcriptome-wide association identify novel T1D susceptibility genes and drug candidates.	Liu Y et al.	—	2025	→
Current approaches in CRISPR-Cas systems for diabetes.	Arivarasan VK et al.	—	2025	→
Current landscape of cancer genomics research in sub-Saharan Africa - a review of literature.	Amaeshi LC et al.	—	2025	→
Deciphering Deleterious nsSNPs in MUC16's SEA Domain: Structural and Functional Implications in Cancer Metastasis via Computational Analysis.	Faruque M et al.	—	2025	→
Dense SNP-based analyses complement forensic anthropology biogeographical ancestry assessments.	Mandape SN et al.	—	2025	→
DNA methylation-based semen age prediction using the markers identified in Koreans and Europeans.	Lee JE et al.	—	2025	→
Double-Negative CD4 CD8 Absolute Count Plays a Mediating Role in the Causal Relationship Between Plasma Lipids and Parkinson's Disease: A Mendel Randomized Study.	Wang C et al.	—	2025	→
Effects of immune cells in mediating the relationship between inflammatory bowel disease and pyoderma gangrenosum: a two-sample, two-step mendelian randomization study.	Zhu H et al.	—	2025	→
Enabling sensitive and precise detection of ctDNA through somatic copy number aberrations in breast cancer.	Scandino R et al.	—	2025	→
Enhanced Risk Prediction for Coronary Heart Disease by Leveraging Polygenic Risk Score and Clinical Risk Score in European Hypertensive Adults.	Shen S et al.	—	2025	→
Equitable inclusion of racialised communities in genomic research: a scoping review.	Valiani A et al.	—	2025	→
Establishing genome sequencing and assembly for non-model and emerging model organisms: a brief guide.	Schell T et al.	—	2025	→
Experience in developing the human genome standard E701.	Vasiliadis I et al.	—	2025	→
Exploring the causal relationship between sedentary behavior and cardiovascular disease: A two-sample Mendelian randomization analysis.	Cao Y et al.	—	2025	→
Exploring the common genetic basis of metabolic syndrome-related diseases and chronic kidney disease: insights from extensive genome-wide cross-trait analyses.	Yin Y et al.	—	2025	→
Exploring the Impact of 731 Immunophenotypes on Alopecia Areata Risk: A Mendelian Randomization Analysis With Plasma Metabolites as Mediators.	Wang C et al.	—	2025	→
Finding easy regions for short-read variant calling from pangenome data.	Li H	—	2025	→
Forbidden codon combinations in error-detecting circular codes.	Fimmel E et al.	—	2025	→
Fourth-degree kinship analysis using 5198 single nucleotide polymorphisms detected by nanopore sequencing platform.	Zhang J et al.	—	2025	→
From teeth to bone: dental caries has causal effects on osteoporosis and osteoporotic fracture.	Zhang G et al.	—	2025	→
Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.	Khurram I et al.	—	2025	→
Gene Therapy for Inherited Retinal Disease: Current Strategies, Personalized Medicine, and Future Implications-A Comprehensive Review.	Butt FR et al.	—	2025	→
Genetically predicted the causal association between serum mineral elements with immune thrombocytopenia and Henoch-Schonlein purpura: a bidirectional two-sample Mendelian randomization analysis.	Chen Y et al.	—	2025	→
Genetic analysis of cis-enhancers associated with bone mineral density and periodontitis in the gene SOST.	Chopra A et al.	—	2025	→
Genetic evidence for amlodipine's protective role in gastroesophageal reflux disease: A focus on CACNB2.	Zhang L et al.	—	2025	→
Genetic risk predictions using deep learning models with summary data.	Wang A et al.	—	2025	→
Genetics of Childhood-Onset Systemic Lupus Erythematosus.	Carlomagno R et al.	—	2025	→
Genetic structure of different ethnic populations at the frontotemporal dementia risk loci.	Mavrych V et al.	—	2025	→
Genetic susceptibility to recurrent vulvovaginal candidiasis in an African population from Nairobi, Kenya.	Omosa-Manyonyi GS et al.	—	2025	→
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.	Demirtas Guner D et al.	—	2025	→
Genome-scale evolution in local populations of wild chimpanzees.	Hayakawa T et al.	—	2025	→
Genomes of critically endangered saola are shaped by population structure and purging.	Garcia-Erill G et al.	—	2025	→
Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.	Hoffmann TJ et al.	—	2025	→
Genome-wide association study of urinary cadmium levels in current smokers from the multiethnic cohort study.	Sullivan SM et al.	—	2025	→
Genomic evidence for males of exceptional reproductive output (ERO) in apes and humans.	Wang X et al.	—	2025	→
Genomic variance in Yucatan pigs and detection of donor-derived cell-free DNA after heart transplantation.	Mendiola Pla M et al.	—	2025	→
Germline mutation rates and fine-scale recombination parameters in zebra finch.	Prentout D et al.	—	2025	→
Gut microbiota and blood metabolites: unveiling their roles in hippocampal volume changes through Mendelian randomization and mediation analysis.	Huang Z et al.	—	2025	→
Hemorrhoids and cardiovascular disease: A bidirectional Mendelian randomization study.	Ge X et al.	—	2025	→
High-recombining genomic regions affect demography inference based on ancestral recombination graphs.	Ishigohoka J et al.	—	2025	→
Human genetic variation reveals FCRL3 is a lymphocyte receptor for Yersinia pestis.	Keener RM et al.	—	2025	→
Identification of Co-Diagnostic Genes and Potential Therapeutic Targets for Asthma and Sepsis Through Mendelian Randomization and Immune Infiltration Analysis.	Chen C et al.	—	2025	→
Identification of gene-sun exposure interactions of GWAS-identified variants in perceived facial aging progression.	Obry L et al.	—	2025	→
Identification of Genomic Structural Variations in Xinjiang Brown Cattle by Deep Sequencing and Their Association with Body Conformation Traits.	Wang D et al.	—	2025	→
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.	Abarca-Barriga HH et al.	—	2025	→
Identifying Common Diagnostic Biomarkers and Therapeutic Targets between COPD and Sepsis: A Bioinformatics and Machine Learning Approach.	Li X et al.	—	2025	→
Ignoring population structure in hominin evolutionary models can lead to the inference of spurious admixture events.	Tournebize R et al.	—	2025	→
Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities.	Dukda S et al.	—	2025	→
Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors.	Radjasandirane R et al.	—	2025	→
Integrated genetic analysis and single cell-RNA sequencing for brain image-derived phenotypes and Parkinson's disease.	Pan L et al.	—	2025	→
Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.	Ketkar S et al.	—	2025	→
Integrative profiling strategies to guide personalized therapy in mantle cell lymphoma: a pilot study.	Liu Y et al.	—	2025	→
Interplay between BMI, neutrophil, triglyceride and uric acid: a case-control study and bidirectional multivariate mendelian randomization analysis.	Lyu H et al.	—	2025	→
Investigating casual association among gut microbiome and esophageal cancer: A Mendelian randomization study.	Atabieke F et al.	—	2025	→
Leveraging multimodal neuroimaging and GWAS for identifying modality-level causal pathways to Alzheimer's disease.	Tian Y et al.	—	2025	→
Living in poverty is associated with gene expression changes in immune cells.	Arnold NS et al.	—	2025	→
LMADCNV: A CNV Detection Method Based on Local Features and MAD for NGS Data.	Ge X et al.	—	2025	→
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.	Gong J et al.	—	2025	→
Melocular Evolution on Cold Temperature Adaptation of Chinese Rhesus Macaques.	Wang X et al.	—	2025	→
Mendelian randomization analysis of female reproductive factors on osteoarthritis.	Pang L et al.	—	2025	→
Mendelian randomization evidence for lung function mediates the association between childhood allergies (age <16 years) and essential hypertension.	Long YH et al.	—	2025	→
Mendelian randomization investigation: Exploring the relationship between phosphatidylinositol levels and hypertrophic cardiomyopathy risk through interleukin-20 receptor subunit alpha expression.	Huang L et al.	—	2025	→
Mental health and sleep correlates of self-reported outdoor daylight exposure in over 13,000 adults with depression.	Crouse JJ et al.	—	2025	→
Merging High-Throughput, Amplicon-Based Second and Third Generation Sequencing Data: An Integrative and Modular Data Analysis Framework for Haplotype Prediction and Output Evaluation.	Mink S et al.	—	2025	→
Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation.	Kipp OL et al.	—	2025	→
Mitochondrial Function, Gut Microbiota, and Gout Risk Among Individuals of European Descent: A Mendelian Randomization Study of a Mediated Relationship.	Li J et al.	—	2025	→
MR analysis reveals no causal association between mitochondrial DNA copy number and osteoporosis.	Xiao M et al.	—	2025	→
Multi-ancestry genome-wide association analyses of polycystic ovary syndrome.	Zhao H et al.	—	2025	→
Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.	Wolford BN et al.	—	2025	→
Neighborhood environment associations with cognitive function and structural brain measures in older African Americans.	Chaar DL et al.	—	2025	→
No Bidirectional Causal Relationship Between Traumatic Brain Injury and Parkinson's Disease: A Two-Sample Mendelian Randomization Study.	Wang H et al.	—	2025	→
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).	Ghasemi MR et al.	—	2025	→
Optimizing human B cell repertoire analyses to interpret clinical data and design sequential HIV vaccines.	Maciel M et al.	—	2025	→
Oral and gut microbiota in gingivitis subtypes: a causal inference study using Mendelian randomization.	Lin J et al.	—	2025	→
Osteoarthritis is a risk factor for renal function injury based on the National Health and Nutrition Examination Survey and Mendelian Randomized study.	Pang L et al.	—	2025	→
Overcoming challenges associated with broad sharing of human genomic data.	LoTempio JE et al.	—	2025	→
Overcoming limitations to customize DeepVariant for domesticated animals with TrioTrain.	Kalleberg J et al.	—	2025	→
Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer.	Li M et al.	—	2025	→
PGSFusion streamlines polygenic score construction and epidemiological applications in biobank-scale cohorts.	Yang S et al.	—	2025	→
Phosphatidylcholine and frailty: a Mendelian randomization study and immune mediation.	Han Q et al.	—	2025	→
Physical activity, sedentary behavior, and metabolic syndrome in adults with arthritis: cross-sectional and Mendelian randomization analysis.	Gong D et al.	—	2025	→
Plasma metabolic landscape unveils key regulators of leukemia subtype progression.	Liang C et al.	—	2025	→
Polygenic risks and cardiovascular treatment effects in severe mental illness.	Yao K et al.	—	2025	→
Position-independent single-nucleotide polymorphism discrimination by CRISPR/Cas12a via rational activator strand engineering.	Li QN et al.	—	2025	→
Preliminary Study on the Genetic Structure and Functional Candidate Genes of Grassland-Thoroughbreds Based on Whole-Genome Resequencing.	Ding W et al.	—	2025	→
Prevalence of hypertriglyceridemic-waist phenotype and its association with type 2 diabetes mellitus among middle-aged and older adults of Amerindian ancestry.	Rumbea DA et al.	—	2025	→
Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.	Olawoye O et al.	—	2025	→
Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.	Zhang X et al.	—	2025	→
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank.	Minn AKK et al.	—	2025	→
Randomizing the human genome by engineering recombination between repeat elements.	Koeppel J et al.	—	2025	→
Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.	Eberth S et al.	—	2025	→
Regulatory Plasticity of the Human Genome.	Srivastava J et al.	—	2025	→
Role of genomic analysis in the classification of well differentiated hepatocellular lesions.	Akarca FG et al.	—	2025	→
scAI-SNP: a method for inferring ancestry from single-cell data.	Hong SC et al.	—	2025	→
Serum metabolites and risk of aortic dissection: a two-sample Mendelian randomization study.	Feng Z et al.	—	2025	→
Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT).	Parsons BL et al.	—	2025	→
Sex-Dependent Influence of Major Histocompatibility Complex Diversity on Fitness in a Social Mammal.	Schubert N et al.	—	2025	→
Spatial-Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment.	Lv W et al.	—	2025	→
Spatial-Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and Tumor-Immune Microenvironment.	Lv W et al.	—	2025	→
stSNV: a comprehensive resource of SNVs in spatial transcriptome.	Yang C et al.	—	2025	→
The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.	Simeone CA et al.	—	2025	→
The causal association between ankylosing spondylitis and endometrial cancer: a two-sample mendelian randomization study.	Gu Y et al.	—	2025	→
The genomic architecture of circulating cytokine levels points to drug targets for immune-related diseases.	Konieczny MJ et al.	—	2025	→
The lactylation-immune regulatory axis: a potential therapeutic target for migraine prevention and treatment.	Wang L et al.	—	2025	→
The phenotypic spectrum of syndromic optic atrophy associated with variants in <i>WFS1</i>: with reclassification of p.Val606Gly as a likely benign variant.	Hull S et al.	—	2025	→
The regulatory variant rs1950834 confers the risk of depressive disorder by reducing LRFN5 expression.	Luan D et al.	—	2025	→
The Somatic Mosaicism across Human Tissues Network.	Coorens THH et al.	—	2025	→
Thyroid Dysfunction and Oral Lichen Planus: Evidence From Two-Sample Mendelian Randomization Analysis.	Xie P et al.	—	2025	→
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy.	Ma Z et al.	—	2025	→
Transcriptomic analysis of the gill and hepatopancreas reveals the thermal adaptation mechanisms of Eriocheir sinensis.	Jiang H et al.	—	2025	→
Unique association of COVID-19 with increased risk of aplastic anemia among various viruses: insights from a two-sample Mendelian randomization study.	Zou J et al.	—	2025	→
Unlocking the regulatory code of RNA: launching the Human RNome Project.	International Human RNome Project Consortium	—	2025	→
Unraveling the genetic association between autoimmune thyroid diseases and idiopathic inflammatory myopathies in the European population.	Chang L et al.	—	2025	→
Use of bidirectional Mendelian randomization to unveil the association of Helicobacter pylori infection and pancreatic cancer.	Hu J et al.	—	2025	→
Winner's curse in rare variant analysis: effect size estimation bias depends on effect direction and the association method used.	Soave D et al.	—	2025	→
3D epigenomics and 3D epigenopathies.	Lee KH et al.	—	2024	→
A causal relationship between panic disorder and risk of alzheimer disease: a two-sample mendelian randomization analysis.	Tian Y et al.	—	2024	→
A Causal Relationship Between Type 1 Diabetes and Risk of Osteoporosis: A Univariable and Multivariable Mendelian Randomization Study.	Qin H et al.	—	2024	→
A comprehensive genetic variant reference for the Chinese population.	Jiang T et al.	—	2024	→
A disease-associated gene desert directs macrophage inflammation through ETS2.	Stankey CT et al.	—	2024	→
Advances in Cardiac Imaging and Genetic Testing for Diagnosis and Risk Stratification in Cardiomyopathies: 2024 Update.	Gasior T	—	2024	→
Advancing human genotyping: The Infinium HTS iSelect Custom microarray panel (Rita) development study.	Pedroza Matute S et al.	—	2024	→
A fine-scale genetic map of the Japanese population.	Takayama J et al.	—	2024	→
A Genetic Analysis of Current Medication Use in the UK Biobank.	Rohde PD	—	2024	→
A genome-wide association study of hand eczema identifies locus 20q13.33 and reveals genetic overlap with atopic dermatitis.	Rosenberg FM et al.	—	2024	→
A Mendelian randomization study on the causal effects of circulating cytokines on the risk of vitiligo.	Liu C et al.	—	2024	→
Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.	Pereira SSS et al.	—	2024	→
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).	Zhu Z et al.	—	2024	→
APOE epsilon variants and composite risk of dementia, disability, and death in the health and retirement study.	Clocchiatti-Tuozzo S et al.	—	2024	→
A Polygenic Risk Analysis for Identifying Ulcerative Colitis Patients with European Ancestry.	Liu L et al.	—	2024	→
Application of two-sample Mendelian randomization method to assess the causal relationship between rheumatoid arthritis and osteoporotic fracture.	Zhenyu C et al.	—	2024	→
Assessing causal association of circulating micronutrients and systemic lupus erythematosus susceptibility: a Mendelian randomization study.	Huang S et al.	—	2024	→
Assessing the causal relationship between CRP, IL-1α, IL-1β, and IL-6 levels and intervertebral disc degeneration: a two-sample Mendelian randomization study.	Yan XA et al.	—	2024	→
Association between oral microbiome and breast cancer in the east Asian population: A Mendelian randomization and case-control study.	Feng K et al.	—	2024	→
Association between programmed death protein 1-related single-nucleotide polymorphisms and immune-related adverse events induced by programmed death protein 1 inhibitors-a pilot study.	Cai L et al.	—	2024	→
Association of cardiovascular disease and urate levels with aortic aneurysm: a bilateral mendelian randomization study.	Xiao Y et al.	—	2024	→
Association of SOGPI in mediating the effect of Phosphatidylcholine on polycystic Ovary Syndrome.	Guo Q et al.	—	2024	→
Association of the dopamine D2 receptor gene SNP rs1800497 with postoperative nausea and vomiting: A prospective cohort study.	Stegen M et al.	—	2024	→
A two-sample mendelian randomization study of non-tuberculous mycobacteria infection and lung cancer.	Shen H et al.	—	2024	→
Beyond Growth Hormone: Association of Short Stature Types and Growth Hormones With Scoliosis.	Hong H et al.	—	2024	→
Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development.	Liu Y et al.	—	2024	→
Bone biochemical markers, bone mineral density, and the risk of osteonecrosis of the femoral head: a Mendelian randomization study.	Jia HF et al.	—	2024	→
Breakfast skipping and traits of cardiometabolic health: A mendelian randomization study.	Xia M et al.	—	2024	→
Breaking genetic shackles: The advance of base editing in genetic disorder treatment.	Xu F et al.	—	2024	→
BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability.	Hoggart CJ et al.	—	2024	→
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.	Critical Assessment of Genome Interpretation Consortium	—	2024	→
Case report: Mutation evolution in a patient with TdT positive high grade B cell lymphoma with MYC and BCL2 rearrangements following the treatment of concurrent follicular lymphoma and diffuse large B-cell lymphoma.	Zhang F et al.	—	2024	→
Causal association between depression and constipation: A bidirectional two-sample Mendelian randomization study.	Guan X et al.	—	2024	→
Causal association between matrix metalloproteinases and diabetic neuropathy: a two-sample Mendelian randomization study.	Bai C et al.	—	2024	→
Causal associations of particulate matter 2.5 and cardiovascular disease: A two-sample mendelian randomization study.	Cao Y et al.	—	2024	→
Causality between ankylosing spondylitis and urolithiasis in European Populations: A Mendelian randomization analysis.	Yan F et al.	—	2024	→
Causality between COVID-19 and multiple myeloma: a two-sample Mendelian randomization study and Bayesian co-localization.	Wang S et al.	—	2024	→
Causal links between blood inflammation markers and postherpetic neuralgia risk: insights from a two-sample Mendelian randomization study.	Wang Y et al.	—	2024	→
Causal relationship between Alzheimer's disease and unstable angina: a bidirectional Mendelian randomization analysis.	Chen YH et al.	—	2024	→
Causal relationship between ankylosing spondylitis and ocular inflammatory diseases: a Mendelian randomization study.	Wang Y et al.	—	2024	→
Causal relationship between inflammatory bowel disease and erythema nodosum: A two-sample bidirectional Mendelian randomization study.	Zhu H et al.	—	2024	→
Causal relationship between intervertebral disc degeneration and osteoporosis: a bidirectional two-sample Mendelian randomization study.	Liu G et al.	—	2024	→
Causal relationship between lipidome and acute respiratory distress syndrome.	Shen R et al.	—	2024	→
Causal relationship between metabolic syndrome and hidradenitis suppurativa: A two-sample bidirectional Mendelian randomization study.	Luo X et al.	—	2024	→
Changes in sleep patterns in people with a history of depression during the COVID-19 pandemic: a natural experiment.	Shin M et al.	—	2024	→
Characterization of the Common Genetic Variation in the Spanish Population of Navarre.	Maillo A et al.	—	2024	→
Clinical Strategies in Gene Screening Counseling for the Healthy General Population.	Kang HY et al.	—	2024	→
Cluster-efficient pangenome graph construction with nf-core/pangenome.	Heumos S et al.	—	2024	→
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.	Brock DC et al.	—	2024	→
Comprehensive deletion scan of anti-CRISPR AcrIIA4 reveals essential and dispensable domains for Cas9 inhibition.	Iturralde AB et al.	—	2024	→
Comprehensive landscape of non-CODIS STRs in global populations provides new insights into challenging DNA profiles.	Huang Y et al.	—	2024	→
Cross-population applications of genomics to understand the risk of multifactorial traits involving inflammation and immunity.	Alamad B et al.	—	2024	→
Cryptic hybridization between the ancient lineages of Natterer's bat (Myotis nattereri).	Josić D et al.	—	2024	→
Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample.	Cinciripini PM et al.	—	2024	→
Detecting <i>Alu</i> Element Insertion Variant in <i>RP1</i> Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa.	Kwon HJ et al.	—	2024	→
Diet affects inflammatory arthritis: a Mendelian randomization study of 30 dietary patterns causally associated with inflammatory arthritis.	Wang H et al.	—	2024	→
Disentangling river and swamp buffalo genetic diversity: initial insights from the 1000 Buffalo Genomes Project.	Pineda PS et al.	—	2024	→
Distributed eQTL analysis with auxiliary information.	Fang Z et al.	—	2024	→
Diversity of ribosomes at the level of rRNA variation associated with human health and disease.	Rothschild D et al.	—	2024	→
Does autoimmune diseases increase the risk of frailty? A Mendelian randomization study.	Zhou J et al.	—	2024	→
Dopamine signaling enriched striatal gene set predicts striatal dopamine synthesis and physiological activity in vivo.	Sportelli L et al.	—	2024	→
Effect of the gut microbiome in glaucoma risk from the causal perspective.	Wu Y et al.	—	2024	→
Effects of Mental Disorders on Fibromyalgia Mediated by Insomnia: A Mendelian Randomization Study.	Chang L et al.	—	2024	→
Elevated incidence of somatic mutations at prevalent genetic sites.	Wang M et al.	—	2024	→
Estimated bone mineral density and white matter hyperintensities: A bidirectional Mendelian randomization study.	Li X et al.	—	2024	→
Ethnic and region-specific genetic risk variants of stroke and its comorbid conditions can define the variations in the burden of stroke and its phenotypic traits.	Sukumaran R et al.	—	2024	→
Evaluating the Efficacy of Type 2 Diabetes Polygenic Risk Scores in an Independent European Population.	Brīvība M et al.	—	2024	→
Evaluating the impact of shift work on the risk of cardiometabolic disease: A Mendelian randomization study.	Cao Y et al.	—	2024	→
Evaluating the relationship between standing height, body mass index, body fat percentage with risk of inguinal hernia: a Mendelian randomization study.	Li Y et al.	—	2024	→
Evaluation of Four Forensic Investigative Genetic Genealogy Analysis Approaches with Decreased Numbers of SNPs and Increased Genotyping Errors.	Zang Y et al.	—	2024	→
Evening Chronotypes With Depression Report Poorer Outcomes of Selective Serotonin Reuptake Inhibitors: A Survey-Based Study of Self-Ratings.	Crouse JJ et al.	—	2024	→
Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements.	Bargary G et al.	—	2024	→
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.	Ghasemi MR et al.	—	2024	→
Exome-wide association study identifies KDELR3 mutations in extreme myopia.	Yuan J et al.	—	2024	→
Exploring causal effects of gut microbiota and metabolites on body fat percentage using two-sample Mendelian randomization.	Wang X et al.	—	2024	→
Exploring Causal Relationships Between Gut Microbiota and Alzheimer's Disease: A Bidirectional Mendelian Randomization Study.	Chen A et al.	—	2024	→
Fast and accurate variant identification tool for sequencing-based studies.	Gaston JM et al.	—	2024	→
Forensic features and phylogenetic structure survey of four populations from southwest China <i>via</i> the autosomal insertion/deletion markers.	Zhang H et al.	—	2024	→
Functional Neural Networks for High-Dimensional Genetic Data Analysis.	Zhang S et al.	—	2024	→
Genetically predicted immune cells mediate the association between gut microbiota and neuropathy pain.	Lan Z et al.	—	2024	→
Genetic and Epigenetic Associations with Post-Transplant Diabetes Mellitus.	Abdelrahman Z et al.	—	2024	→
Genetic and linguistic comparisons reveal complex sex-biased transmission of language features.	Pichkar Y et al.	—	2024	→
Genetic architecture of cardiac dynamic flow volumes.	Gomes B et al.	—	2024	→
Genetic associations between physical activity levels and functional outcome after ischemic stroke: Insights from Mendelian randomization.	Zhang Z et al.	—	2024	→
Genetic associations between Rapid Eye Movement (REM) sleep behavior disorder and cardiovascular diseases.	Xu P et al.	—	2024	→
Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications.	Qi M et al.	—	2024	→
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.	Yeo NK et al.	—	2024	→
Genetic risk for hospitalization of African American patients with severe mental illness reveals HLA loci.	Lori A et al.	—	2024	→
Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals.	Akiyama M et al.	—	2024	→
Genome-Wide Architecture of East Asian Patients With Migraine: A Genome-Wide Association Study Based on Familial History.	Kim J et al.	—	2024	→
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease.	Wang X et al.	—	2024	→
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.	Wang P et al.	—	2024	→
Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study.	Hall M et al.	—	2024	→
Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy.	Matsuo T et al.	—	2024	→
Genome-Wide Scans for Selection Signatures in Ningxia Angus Cattle Reveal Genetic Variants Associated with Economic and Adaptive Traits.	Yin H et al.	—	2024	→
Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.	Seifu WD et al.	—	2024	→
Genomic insights into the shared and distinct genetic architecture of cognitive function and schizophrenia.	Wootton O et al.	—	2024	→
Genomic Mosaicism of the Brain: Origin, Impact, and Utility.	Graham JH et al.	—	2024	→
Geny: a genotyping tool for allelic decomposition of killer cell immunoglobulin-like receptor genes.	Zhou Q et al.	—	2024	→
HiChIP-Based Epigenomic Footprinting Identifies a Promoter Variant of UXS1 That Confers Genetic Susceptibility to Gastroesophageal Cancer.	Gnanapragasam A et al.	—	2024	→
HLA-DPB113:01 associates with enhanced, and KIR2DS4001 with diminished protection from developing severe COVID-19.	Farias TDJ et al.	—	2024	→
Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia).	Sun Y et al.	—	2024	→
Identification of genetic basis of brain imaging by group sparse multi-task learning leveraging summary statistics.	Xi D et al.	—	2024	→
Identifying the plasma metabolome responsible for mediating immune cell action in severe COVID-19: a Mendelian randomization investigation.	Zhang Y et al.	—	2024	→
Immune cells mediate the causal relationship between uveitis and colorectal cancer via Mendelian randomization analysis.	Zhou L et al.	—	2024	→
Impact of the inaccessible genome on genotype imputation and genome-wide association studies.	König E et al.	—	2024	→
Improving long-term kidney allograft survival by rethinking HLA compatibility: from molecular matching to non-HLA genes.	Mattoo A et al.	—	2024	→
Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction.	Zhuang Y et al.	—	2024	→
Integrated approach to generate artificial samples with low tumor fraction for somatic variant calling benchmarking.	Sergi A et al.	—	2024	→
Integrative identification of non-coding regulatory regions driving metastatic prostate cancer.	Woo BJ et al.	—	2024	→
Investigating causal associations among gut microbiota, metabolites, and psoriatic arthritis: a Mendelian randomization study.	Xu X et al.	—	2024	→
Investigating the association between blood metabolites and telomere length: A mendelian randomization study.	Gao C	—	2024	→
Investigating the Causal Effects of Exercise-Induced Genes on Sarcopenia.	Wang L et al.	—	2024	→
Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.	Jeon S et al.	—	2024	→
LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.	Deng J et al.	—	2024	→
Long genetic and social isolation in Neanderthals before their extinction.	Slimak L et al.	—	2024	→
Long-term longitudinal analysis of 4,187 participants reveals insights into determinants of clonal hematopoiesis.	Uddin MM et al.	—	2024	→
Loss of heterozygosity of CYP2D6 enhances the sensitivity of hepatocellular carcinomas to talazoparib.	Zhang X et al.	—	2024	→
Loss of transient receptor potential channel 5 causes obesity and postpartum depression.	Li Y et al.	—	2024	→
LRTK: a platform agnostic toolkit for linked-read analysis of both human genome and metagenome.	Yang C et al.	—	2024	→
Major impacts of widespread structural variation on sorghum.	Zhang Z et al.	—	2024	→
Measuring the Efficiency of Purging by non-random Mating in Human Populations.	Laurent R et al.	—	2024	→
Mendelian randomization of stroke risk after total hip and knee replacements.	Pang L et al.	—	2024	→
Mendelian randomization reveals apolipoprotein B shortens healthspan and possibly increases risk for Alzheimer's disease.	Martin L et al.	—	2024	→
Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.	Zheng HX et al.	—	2024	→
Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.	Briones MRS et al.	—	2024	→
Molecular causality in the advent of foundation models.	Lobentanzer S et al.	—	2024	→
Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.	Pommerenke C et al.	—	2024	→
Multimodal functional deep learning for multiomics data.	Zhou Y et al.	—	2024	→
Multi-omics analysis reveals the genetic aging landscape of Parkinson's disease.	Wang Z et al.	—	2024	→
No bidirectional relationship between constipation and colorectal cancer in European and Asian populations: A Mendelian randomization study.	Aierken A et al.	—	2024	→
No bidirectional relationship between inflammatory bowel disease and diverticular disease: a genetic correlation and Mendelian randomization study.	Aierken A et al.	—	2024	→
No causal association between atopic dermatitis and COVID-19 outcomes: A Mendelian randomization study.	Jin C et al.	—	2024	→
No genetic causal association between human papillomavirus and lung cancer risk: a bidirectional two-sample Mendelian randomization analysis.	Chen Y et al.	—	2024	→
No genetic causal association between periodontitis and ankylosing spondylitis: a bidirectional two-sample mendelian randomization analysis.	Han C et al.	—	2024	→
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.	Lo Faro V et al.	—	2024	→
Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations.	Pandey RK et al.	—	2024	→
Nutritional Genomics: Implications for Age-Related Macular Degeneration.	Figueiredo I et al.	—	2024	→
On the core segmentation algorithms of copy number variation detection tools.	Zhang Y et al.	—	2024	→
Patterns of stressful life events and polygenic scores for five mental disorders and neuroticism among adults with depression.	Crouse JJ et al.	—	2024	→
Periodontitis and Sjogren's syndrome: a bidirectional two-sample mendelian randomization study.	Liu Y et al.	—	2024	→
Personalized Nutrition: Tailoring Dietary Recommendations through Genetic Insights.	Singar S et al.	—	2024	→
Potential association of rheumatic diseases with bone mineral density and fractures: a bi-directional mendelian randomization study.	Hong CX et al.	—	2024	→
Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat.	Shelton GD et al.	—	2024	→
Predicted genetic burden and frequency of phenotype-associated variants in the horse.	Durward-Akhurst SA et al.	—	2024	→
Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler.	Álvarez-Machancoses Ó et al.	—	2024	→
Proteogenomic Landscape of Breast Ductal Carcinoma Reveals Tumor Progression Characteristics and Therapeutic Targets.	Xu G et al.	—	2024	→
Protocol for detecting rare and common genetic associations in whole-exome sequencing studies using MAGICpipeline.	Yuan J et al.	—	2024	→
Pure LATE-NC: Frequency, clinical impact, and the importance of considering APOE genotype when assessing this and other subtypes of non-Alzheimer's pathologies.	Katsumata Y et al.	—	2024	→
Pyroptosis, gasdermins and allergic diseases.	Panganiban RA et al.	—	2024	→
Quantifying the regulatory potential of genetic variants via a hybrid sequence-oriented model with SVEN.	Wang Y et al.	—	2024	→
Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assay <i>in vitro</i>.	Xiong E et al.	—	2024	→
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.	Yilmaz F et al.	—	2024	→
Relationship between serum vitamin D levels and thyroid- and parathyroid-related diseases: a Mendelian randomisation study.	Zhang L et al.	—	2024	→
Resting heart rate and risk of dementia: a Mendelian randomization study in the international genomics of Alzheimer's Project and UK Biobank.	Chen X et al.	—	2024	→
Revealing the seed microbiome: Navigating sequencing tools, microbial assembly, and functions to amplify plant fitness.	Kumar A et al.	—	2024	→
Role of double-negative autoreactive cells (CD4<sup>-</sup>CD8<sup>-</sup>) in phosphatidylcholine-mediated rheumatoid arthritis: A Mendelian randomization study.	Zhao H et al.	—	2024	→
Role of interleukin-18 in mediating the impacts of celiac disease on osteoporosis: a Mendelian randomization study.	Xiang J et al.	—	2024	→
Searching across-cohort relatives in 54,092 GWAS samples via encrypted genotype regression.	Zhang QX et al.	—	2024	→
Sex-stratified genome-wide association and transcriptome-wide Mendelian randomization studies reveal drug targets of heart failure.	Yang Q et al.	—	2024	→
SGLT1 and SGLT2 inhibition, circulating metabolites, and cerebral small vessel disease: a mediation Mendelian Randomization study.	Lv Y et al.	—	2024	→
SNP-Based and Kmer-Based eQTL Analysis Using Transcriptome Data.	Ge M et al.	—	2024	→
Sparse Negative Binomial Signal Recovery for Genomic Variant Prediction in Diploid Species.	Munoz JO et al.	—	2024	→
Specific Mutation Predict Relapse/Refractory Diffuse Large B-Cell Lymphoma.	Wang J et al.	—	2024	→
Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability.	Masnovo C et al.	—	2024	→
The battle of the sexes in humans is highly polygenic.	Cole JM et al.	—	2024	→
The causal effects of circulating cytokines on sepsis: a Mendelian randomization study.	Fang W et al.	—	2024	→
The causal relationship between cholecystectomy and IBD/IBS and the role of bile acids and gut microbiota: a two-sample Mendelian randomization study.	Peng D et al.	—	2024	→
The Causal Relationship between Genetically Predicted Biological Aging, Alzheimer's Disease and Cognitive Function: A Mendelian Randomisation Study.	Hao Y et al.	—	2024	→
The causal relationship between severe mental illness and risk of lung carcinoma.	Chen X et al.	—	2024	→
The dominant findings of a recessive man: from Mendel's kid pea to kidney.	Tory K	—	2024	→
The effects of immunomodulatory drugs on cerebral small vessel disease: A mediation Mendelian randomization analysis.	Lv Y	—	2024	→
The evolutionary dynamics of local adaptations under genetic rescue is determined by mutational load and polygenicity.	Zhang Y et al.	—	2024	→
The genetic causal association between hip or knee osteoarthritis and frailty: a two-sample Mendelian randomization analysis.	Zhou J et al.	—	2024	→
The Gut Microbiota and Its Metabolites and Their Association with the Risk of Autoimmune Thyroid Disease: A Mendelian Randomization Study.	Zhang C et al.	—	2024	→
The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies.	Austin-Zimmerman I et al.	—	2024	→
The Toxoplasma gondii F-Box Protein L2 Functions as a Repressor of Stage Specific Gene Expression.	Baptista CG et al.	—	2024	→
Thyroid cancer and cardiovascular diseases: a Mendelian randomization study.	Gao Y et al.	—	2024	→
Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing.	Lebedeva A et al.	—	2024	→
Unveiling the muscle-brain axis: A bidirectional mendelian randomization study investigating the causal relationship between sarcopenia-related traits and brain aging.	Li Z et al.	—	2024	→
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.	Lin YJ et al.	—	2024	→
Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province.	Li Y et al.	—	2024	→
YY1 is involved in homologous recombination inhibition at guanine quadruplex sites in human cells.	Cui X et al.	—	2024	→
A computational framework for improving genetic variants identification from 5,061 sheep sequencing data.	Xie S et al.	—	2023	→
A fast and powerful linear mixed model approach for genotype-environment interaction tests in large-scale GWAS.	Zhong W et al.	—	2023	→
AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine.	Quan X et al.	—	2023	→
Animal-SNPAtlas: a comprehensive SNP database for multiple animals.	Gao Y et al.	—	2023	→
A Pilot Study of Associations Between the Occurrence of Palpitations and Cytokine Gene Variations in Women Prior to Breast Cancer Surgery.	Sheng Y et al.	—	2023	→
A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine.	Jayaraman P et al.	—	2023	→
Archaic humans have contributed to large-scale variation in modern human T cell receptor genes.	Corcoran M et al.	—	2023	→
Archaic Introgression Shaped Human Circadian Traits.	Velazquez-Arcelay K et al.	—	2023	→
Arguments for and against the whole-genome sequencing of newborns.	Szalai C	—	2023	→
A risk-based approach for cell line development, manufacturing and characterization of genetically engineered, induced pluripotent stem cell-derived allogeneic cell therapies.	Dashnau JL et al.	—	2023	→
A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma.	Giaccherini M et al.	—	2023	→
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.	Garret P et al.	—	2023	→
Association Between IL10 Polymorphisms and the Susceptibility to Sepsis: A Meta-Analysis.	Zhang N et al.	—	2023	→
Association between inflammatory bowel disease and pancreatic cancer: results from the two-sample Mendelian randomization study.	Min Y et al.	—	2023	→
Association between oral microbiome and seven types of cancers in East Asian population: a two-sample Mendelian randomization analysis.	Feng K et al.	—	2023	→
Association between sleep traits and primary liver cancer: A Mendelian randomization analysis.	Yang X et al.	—	2023	→
Association of leisure sedentary behavior and physical activity with the risk of nonalcoholic fatty liver disease: a two-sample Mendelian randomization study.	Zhang X et al.	—	2023	→
Associations between brain gene expression perturbations implicated by COVID-19 and psychiatric disorders.	Gao Y et al.	—	2023	→
Associations of Homocysteine, Folate, and Vitamin B12 with Osteoarthritis: A Mendelian Randomization Study.	Hong H et al.	—	2023	→
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.	Choi J et al.	—	2023	→
Biobank-scale methods and projections for sparse polygenic prediction from machine learning.	Raben TG et al.	—	2023	→
Calcium Homeostasis and Psychiatric Disorders: A Mendelian Randomization Study.	Jiang M et al.	—	2023	→
Causal association between inflammatory bowel disease and herpes virus infections: a two-sample bidirectional Mendelian randomization study.	Zou M et al.	—	2023	→
Causal associations between gut microbiota and primary biliary cholangitis: a bidirectional two-sample Mendelian randomization study.	Zhang J et al.	—	2023	→
Causal associations between serum amino acid levels and osteoarthritis: a Mendelian randomization study.	Cui ZY et al.	—	2023	→
Causality of anti-<i>Helicobacter pylori</i> IgG levels on myocardial infarction and potential pathogenesis: a Mendelian randomization study.	Wang Q et al.	—	2023	→
Causal relationship between depression and aging: a bidirectional two-sample Mendelian randomization study.	Luo X et al.	—	2023	→
Causal relationship between gut microbiota and immune thrombocytopenia: a Mendelian randomization study of two samples.	Guo D et al.	—	2023	→
Causal relationship between telomere length and epilepsy: A bidirectional Mendelian randomization study.	Luo X et al.	—	2023	→
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.	Lakeman IMM et al.	—	2023	→
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).	Matalon DR et al.	—	2023	→
CNV-FB: A Feature bagging strategy-based approach to detect copy number variants from NGS data.	Li C et al.	—	2023	→
Cold-induced vasodilation response in a Japanese cohort: insights from cold-water immersion and genome-wide association studies.	Yasukochi Y et al.	—	2023	→
Computational modeling and prediction of deletion mutants.	Woods H et al.	—	2023	→
Constipation and cardiovascular disease: A two-sample Mendelian randomization analysis.	Dong Q et al.	—	2023	→
Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.	Miyazawa K et al.	—	2023	→
Detection of alternative DNA structures and its implications for human disease.	Matos-Rodrigues G et al.	—	2023	→
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.	Zhunussova G et al.	—	2023	→
Development of a multiplex panel with 31 multi-allelic InDels for forensic DNA typing.	Yao Y et al.	—	2023	→
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.	Mahmood K et al.	—	2023	→
Evaluation of microhaplotype panels for complex kinship analysis using massively parallel sequencing.	Xue J et al.	—	2023	→
Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.	Afkhami N et al.	—	2023	→
Evidence for a shared genetic contribution to loneliness and borderline personality disorder.	Schulze A et al.	—	2023	→
Expectile Neural Networks for Genetic Data Analysis of Complex Diseases.	Lin J et al.	—	2023	→
Exploring the Effect of the Gut Microbiome on the Risk of Age-Related Macular Degeneration From the Perspective of Causality.	Liu K et al.	—	2023	→
Fast and accurate joint inference of coancestry parameters for populations and/or individuals.	Mary-Huard T et al.	—	2023	→
Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma.	Simon SM	—	2023	→
FixItFelix: improving genomic analysis by fixing reference errors.	Behera S et al.	—	2023	→
Forensic Characterization and Genetic Portrait of the Gannan Tibetan Ethnic Group via 165 AI-SNP Loci.	Cui W et al.	—	2023	→
From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies.	Crotti L et al.	—	2023	→
Gene-alcohol interactions in birth defects.	Everson JL et al.	—	2023	→
Genetically predicted obesity and risk of hip osteoarthritis.	Yuan J et al.	—	2023	→
Genetic Ancestry Inference from Cancer-Derived Molecular Data across Genomic and Transcriptomic Platforms.	Belleau P et al.	—	2023	→
Genetic and phenotypic frequency distribution of ACE, ADRB1, AGTR1, CYP2C93, CYP2D610, CYP3A5*3, NPPA and factors associated with hypertension in Chinese Han hypertensive patients.	Wang Z et al.	—	2023	→
Genetic association models are robust to common population kinship estimation biases.	Hou Z et al.	—	2023	→
Genetic Backgrounds Associated With Stent Thrombosis: A Pilot Study From a Percutaneous Coronary Intervention Registry.	Shoji S et al.	—	2023	→
Genetic features and phylogenetic relationship analyses of Guizhou Han population residing in Southwest China via 38 X-InDels.	Feng Y et al.	—	2023	→
Genetics of Alzheimer's Disease in the African American Population.	Logue MW et al.	—	2023	→
Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks.	Sato-Akuhara N et al.	—	2023	→
Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy.	Li M et al.	—	2023	→
Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability.	Wootton O et al.	—	2023	→
Genome-wide association study of abnormal elevation of ALT in patients exposed to atabecestat.	Li QS et al.	—	2023	→
Genome-wide association study of Helicobacter pylori serological status in Latin American children.	Lima IS et al.	—	2023	→
Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.	Helkkula P et al.	—	2023	→
Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals.	Akiyama M et al.	—	2023	→
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.	Martin-Trujillo A et al.	—	2023	→
Genomic Analysis in the Categorization of Poorly Differentiated Primary Liver Carcinomas.	Kikuchi AT et al.	—	2023	→
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.	Suthapot P et al.	—	2023	→
Genomic structural variation: A complex but important driver of human evolution.	Soto DC et al.	—	2023	→
Global comparative transcriptomes uncover novel and population-specific gene expression in esophageal squamous cell carcinoma.	Alotaibi A et al.	—	2023	→
Global detection of human variants and isoforms by deep proteome sequencing.	Sinitcyn P et al.	—	2023	→
Glucocorticoid Receptor Gene (<i>NR3C1</i>) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population.	Kolb KL et al.	—	2023	→
GVC: efficient random access compression for gene sequence variations.	Adhisantoso YG et al.	—	2023	→
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.	Lagou V et al.	—	2023	→
Heritability Estimation Approaches Utilizing Genome-Wide Data.	Srivastava AK et al.	—	2023	→
Histopathologic and proteogenomic heterogeneity reveals features of clear cell renal cell carcinoma aggressiveness.	Li Y et al.	—	2023	→
How much do we know about the function of mammalian genes?	Teboul L et al.	—	2023	→
Human variation impacting <i>MCOLN2</i> restricts <i>Salmonella</i> Typhi replication by magnesium deprivation.	Gibbs KD et al.	—	2023	→
Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients.	Kim DJ et al.	—	2023	→
Identification of candidate genes for developmental colour agnosia in a single unique family.	Nijboer TCW et al.	—	2023	→
Identification of candidate genes responsible for innate fear behavior in the chicken.	Ochiai T et al.	—	2023	→
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.	Maryami F et al.	—	2023	→
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors.	Zapata L et al.	—	2023	→
Importance of Diversity in Precision Medicine: Generalizability of Genetic Associations Across Ancestry Groups Toward Better Identification of Disease Susceptibility Variants.	Cruz LA et al.	—	2023	→
Insights into Sex and Gender Differences in Brain and Psychopathologies Using Big Data.	Zelco A et al.	—	2023	→
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.	Maryami F et al.	—	2023	→
In-silico identification and comparison of transcription factor binding sites cluster in anterior-posterior patterning genes in Drosophila melanogaster and Tribolium castaneum.	Moudgil A et al.	—	2023	→
In silico methods for predicting functional synonymous variants.	Lin BC et al.	—	2023	→
Integrated Genomic and Clinicopathologic Approach Distinguishes Pancreatic Grade 3 Neuroendocrine Tumor From Neuroendocrine Carcinoma and Identifies a Subset With Molecular Overlap.	Umetsu SE et al.	—	2023	→
Investigating the causal relationship between ankylosing spondylitis and osteoporosis in the European population: a bidirectional Mendelian randomization study.	Mei J et al.	—	2023	→
<i>slendr</i>: a framework for spatio-temporal population genomic simulations on geographic landscapes.	Petr M et al.	—	2023	→
Limitations of principal components in quantitative genetic association models for human studies.	Yao Y et al.	—	2023	→
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges.	Warburton PE et al.	—	2023	→
Mapinsights: deep exploration of quality issues and error profiles in high-throughput sequence data.	Das S et al.	—	2023	→
Matching variants for functional characterization of genetic variants.	Cevik S et al.	—	2023	→
Mendelian randomization indicates that atopic dermatitis contributes to the occurrence of diabetes.	Lu F et al.	—	2023	→
Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.	He Z et al.	—	2023	→
MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction.	Ge F et al.	—	2023	→
Modern Japanese ancestry-derived variants reveal the formation process of the current Japanese regional gradations.	Watanabe Y et al.	—	2023	→
Multifactor dimensionality reduction method identifies novel SNP interactions in the WNT protein interaction networks that are associated with recurrence risk in colorectal cancer.	Curtis AA et al.	—	2023	→
Multiple psychiatric polygenic risk scores predict associations between childhood adversity and bipolar disorder.	Yao K et al.	—	2023	→
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.	Calmarza P et al.	—	2023	→
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.	Andreassen OA et al.	—	2023	→
No causal association between COVID-19 and sepsis: a bidirectional two-sample Mendelian randomization study.	Lu H et al.	—	2023	→
Noninvasive integrative approach applied to children in the context of recent air pollution exposure demonstrates association between fractional exhaled nitric oxide (FeNO) and urinary CC16.	Nauwelaerts SJD et al.	—	2023	→
Osteoarthritis and risk of type 2 diabetes: A two-sample Mendelian randomization analysis.	Xing X et al.	—	2023	→
Pan-cancer proteogenomics connects oncogenic drivers to functional states.	Li Y et al.	—	2023	→
Parkinson's disease updates: Addressing the pathophysiology, risk factors, genetics, diagnosis, along with the medical and surgical treatment.	Prajjwal P et al.	—	2023	→
Periodontitis and stroke: A Mendelian randomization study.	Ma C et al.	—	2023	→
Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV.	Cindi Z et al.	—	2023	→
PhD-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants.	Capriotti E et al.	—	2023	→
Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.	Jiang M et al.	—	2023	→
Polygenic risk scores and breast cancer risk prediction.	Roberts E et al.	—	2023	→
Polygenic scores for psychiatric disorders in a diverse postmortem brain tissue cohort.	Duncan L et al.	—	2023	→
Polymorphisms in Cytokine Receptor and Regulator Genes are Associated with Levels of Exercise in Women Prior to Breast Cancer Surgery.	Haas ND et al.	—	2023	→
Poor sleep and shift work associate with increased blood pressure and inflammation in UK Biobank participants.	Kanki M et al.	—	2023	→
Postpartum and non-postpartum depression: a population-based matched case-control study comparing polygenic risk scores for severe mental disorders.	Munk-Olsen T et al.	—	2023	→
Predicting Pathology of Missense Mutations through Protein-Specific Evolutionary Pattern.	Ye B et al.	—	2023	→
Prediction of chromatin looping using deep hybrid learning (DHL).	Chiliński M et al.	—	2023	→
Protective effect of uridine on atrial fibrillation: a Mendelian randomisation study.	Xu X et al.	—	2023	→
Rapid Evolution of the Fine-scale Recombination Landscape in Wild House Mouse (Mus musculus) Populations.	Wooldridge LK et al.	—	2023	→
Reconciling Mouse and Human Immunology at the Altar of Genetics.	Gros P et al.	—	2023	→
Refphase: Multi-sample phasing reveals haplotype-specific copy number heterogeneity.	Watkins TBK et al.	—	2023	→
Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era.	Correia C et al.	—	2023	→
Relationship Between Retinal Layer Thickness and Genetic Susceptibility to Age-Related Macular Degeneration in Asian Populations.	Cheong KX et al.	—	2023	→
Remote regulation of rs80245547 and rs72673891 mediated by transcription factors C-Jun and CREB1 affect <i>GSTCD</i> expression.	Li JX et al.	—	2023	→
Retrospective pharmacogenetic study in a cohort of pediatric tuberous sclerosis complex patients using everolimus.	Concha J et al.	—	2023	→
Roles of obesity in mediating the causal effect of attention-deficit/hyperactivity disorder on diabetes.	Liu N et al.	—	2023	→
Semantic and Population Analysis of the Genetic Targets Related to COVID-19 and Its Association with Genes and Diseases.	Papageorgiou L et al.	—	2023	→
Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population.	Su J et al.	—	2023	→
Sequential sequencing by synthesis and the next-generation sequencing revolution.	Uhlen M et al.	—	2023	→
Single-cell genomics meets human genetics.	Cuomo ASE et al.	—	2023	→
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.	Ruf WP et al.	—	2023	→
Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations.	Wang B et al.	—	2023	→
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.	Weinstock JS et al.	—	2023	→
The genetic etiology of periodic limb movement in sleep.	Edelson JL et al.	—	2023	→
The Impact of Sample Size and Population History on Observed Mutational Spectra: A Case Study in Human and Chimpanzee Populations.	Ghafoor S et al.	—	2023	→
The Principles and Applications of High-Throughput Sequencing Technologies.	Lee JY	—	2023	→
The Role of Genetics in the Management of Heart Failure Patients.	Palmieri G et al.	—	2023	→
The Telomere-Telomerase System Is Detrimental to Health at High-Altitude.	Pasha Q et al.	—	2023	→
Translational fidelity screens in mammalian cells reveal eIF3 and eIF4G2 as regulators of start codon selectivity.	She R et al.	—	2023	→
Urban evolutionary ecology brings exaptation back into focus.	Winchell KM et al.	—	2023	→
Variant biomarker discovery using mass spectrometry-based proteogenomics.	Reilly L et al.	—	2023	→
VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.	Ge F et al.	—	2023	→
Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke.	Xie Y et al.	—	2023	→
Whole-Genome Sequencing of 502 Individuals from Latvia: The First Step towards a Population-Specific Reference of Genetic Variation.	Reščenko R et al.	—	2023	→
Whole genome sequencing reveals population diversity and variation in HIV-1 specific host genes.	Thami PK et al.	—	2023	→
3D chromatin structure in chondrocytes identifies putative osteoarthritis risk genes.	Thulson E et al.	—	2022	→
ABO genotype alters the gut microbiota by regulating GalNAc levels in pigs.	Yang H et al.	—	2022	→
ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia.	Karnes JH et al.	—	2022	→
Absence of causal association between Vitamin D and bone mineral density across the lifespan: a Mendelian randomization study.	Tang Y et al.	—	2022	→
A conditional autoregressive model for genetic association analysis accounting for genetic heterogeneity.	Shen X et al.	—	2022	→
Addressing Noise and Estimating Uncertainty in Biomedical Data through the Exploration of Chemical Space.	deAndrés-Galiana EJ et al.	—	2022	→
Advances in integrative African genomics.	Zhang C et al.	—	2022	→
A framework for research into continental ancestry groups of the UK Biobank.	Constantinescu AE et al.	—	2022	→
A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients.	Asiimwe IG et al.	—	2022	→
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.	Iancu IF et al.	—	2022	→
Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants.	White RJ et al.	—	2022	→
Allelic polymorphism controls autoreactivity and vaccine elicitation of human broadly neutralizing antibodies against influenza virus.	Sangesland M et al.	—	2022	→
A Map of 3' DNA Transduction Variants Mediated by Non-LTR Retroelements on 3202 Human Genomes.	Halabian R et al.	—	2022	→
An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases.	Yuan Y et al.	—	2022	→
Analysis of archaic human haplotypes suggests that 5hmC acts as an epigenetic guide for NCO recombination.	Lee B et al.	—	2022	→
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.	Elfatih A et al.	—	2022	→
Angioimmunoblastic T-cell lymphoma with extensive follicular dendritic cell and fibroblastic reticular cell network proliferation mimicking follicular dendritic cell sarcoma: A case report with pathologic, immunophenotypic, and molecular findings.	Zhang F et al.	—	2022	→
A Pipeline for Phasing and Genotype Imputation on Mixed Human Data (Parents-Offspring Trios and Unrelated Subjects) by Reviewing Current Methods and Software.	Baldrighi GN et al.	—	2022	→
A Population-Based Human In Vitro Approach to Quantify Inter-Individual Variability in Responses to Chemical Mixtures.	Ford LC et al.	—	2022	→
Apportioning archaic variants among modern populations.	Witt KE et al.	—	2022	→
Association of Early Childhood Caries with Bitter Taste Receptors: A Meta-Analysis of Genome-Wide Association Studies and Transcriptome-Wide Association Study.	Orlova E et al.	—	2022	→
A Study on the Prediction of Cancer Using Whole-Genome Data and Deep Learning.	Lee YJ et al.	—	2022	→
A Survey of Biological Data in a Big Data Perspective.	Dall'Alba G et al.	—	2022	→
Bacterial DNA involvement in carcinogenesis.	Yangyanqiu W et al.	—	2022	→
Birth weight, adult weight, and cardiovascular biomarkers: Evidence from the Cardiovascular Young Finns Study.	Pehkonen J et al.	—	2022	→
Borderline personality disorder and the big five: molecular genetic analyses indicate shared genetic architecture with neuroticism and openness.	Streit F et al.	—	2022	→
Causal Effects of Circulating Cytokines on the Risk of Psoriasis Vulgaris: A Mendelian Randomization Study.	Zhao P et al.	—	2022	→
Causal Effects of Genetically Predicted Cystatin C on Osteoporosis: A Two-Sample Mendelian Randomization Study.	Yuan J et al.	—	2022	→
Causal inference on neuroimaging data with Mendelian randomisation.	Taschler B et al.	—	2022	→
CCAS: One-stop and comprehensive annotation system for individual cancer genome at multi-omics level.	Zheng X et al.	—	2022	→
Challenges and opportunities associated with rare-variant pharmacogenomics.	Zhou Y et al.	—	2022	→
Characterization of the Illumina EPIC Array for Optimal Applications in Epigenetic Research Targeting Diverse Human Populations.	Zhang Z et al.	—	2022	→
Chromosome-Level Haplotype Assembly for <i>Equus asinu</i>.	Miao X et al.	—	2022	→
Common BMI and diabetes-related genetic variants: A pilot study among indigenous people in the Brazilian Amazon.	Diniz IG et al.	—	2022	→
Comparative evaluation of the heterozygous variant standard deviation as a quality measure for next-generation sequencing.	Høy Hansen M et al.	—	2022	→
Comparison of somatic mutation landscapes in Chinese versus European breast cancer patients.	Zhu B et al.	—	2022	→
Comprehensive In Silico Analysis of Retrotransposon Insertions within the <i>Survival Motor Neuron</i> Genes Involved in Spinal Muscular Atrophy.	Pinto A et al.	—	2022	→
Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.	Otsuki A et al.	—	2022	→
COVID-19 in pediatrics: Genetic susceptibility.	Glessner JT et al.	—	2022	→
Demographic history differences between Hispanics and Brazilians imprint haplotype features.	da Cruz PRS et al.	—	2022	→
De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.	Ragamin A et al.	—	2022	→
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.	Ng JK et al.	—	2022	→
Development of a High-Density 665 K SNP Array for Rainbow Trout Genome-Wide Genotyping.	Bernard M et al.	—	2022	→
Disease category-specific annotation of variants using an ensemble learning framework.	Cao Z et al.	—	2022	→
Does better education mitigate risky health behavior? A mendelian randomization study.	Viinikainen J et al.	—	2022	→
Donor-Recipient Non-HLA Variants, Mismatches and Renal Allograft Outcomes: Evolving Paradigms.	Jethwani P et al.	—	2022	→
Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.	Zhang D et al.	—	2022	→
d-StructMAn: Containerized structural annotation on the scale from genetic variants to whole proteomes.	Gress A et al.	—	2022	→
Efficient detection and assembly of non-reference DNA sequences with synthetic long reads.	Meleshko D et al.	—	2022	→
Episodes of Diversification and Isolation in Island Southeast Asian and Near Oceanian Male Lineages.	Karmin M et al.	—	2022	→
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.	Wilde AAM et al.	—	2022	→
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.	Wilde AAM et al.	—	2022	→
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.	Wilde AAM et al.	—	2022	→
Evolutionary Genomics of a Subdivided Species.	Maruki T et al.	—	2022	→
Evolutionary history of type II transmembrane serine proteases involved in viral priming.	Forni D et al.	—	2022	→
Evolution of genetic networks for human creativity.	Zwir I et al.	—	2022	→
ExAgBov: A public database of annotated variations from hundreds of bovine whole-exome sequencing samples.	Raz R et al.	—	2022	→
Experience in diagnosis and treatment of prolactinomas in pediatric patients and young adults.	Lanes Iglesias S et al.	—	2022	→
Exploring the effects of genetic variation on gene regulation in cancer in the context of 3D genome structure.	Osman N et al.	—	2022	→
Five Priorities of African Genomics Research: The Next Frontier.	Wonkam A et al.	—	2022	→
Forensic efficiencies of individual identification, kinship testing and ancestral inference in three Yunnan groups based on a self-developed multiple DIP panel.	Chen M et al.	—	2022	→
Forensic Feature Exploration and Comprehensive Genetic Insights Into Yugu Ethnic Minority and Northern Han Population <i>via</i> a Novel NGS-Based Marker Set.	Lan Q et al.	—	2022	→
Frailty index and risk of cardiovascular diseases: a mendelian randomization study.	Li J et al.	—	2022	→
From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect.	Chiliński M et al.	—	2022	→
Gene essentiality and variability: What is the link? A within- and between-species perspective.	Dubois-Mignon T et al.	—	2022	→
Genetically predicted body fat mass and distribution with diabetic kidney disease: A two-sample Mendelian randomization study.	Wang M et al.	—	2022	→
Genetically predicted C-reactive protein mediates the association between rheumatoid arthritis and atlantoaxial subluxation.	Yuan J et al.	—	2022	→
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.	Portilla-Fernandez E et al.	—	2022	→
Genetic association of TMPRSS2 rs2070788 polymorphism with COVID-19 case fatality rate among Indian populations.	Pandey RK et al.	—	2022	→
Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.	Alrefaei AF et al.	—	2022	→
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians.	Xiu X et al.	—	2022	→
Genetic insights and evaluation of forensic features in Mongolian and Ewenki groups using the InDel variations.	Lan Q et al.	—	2022	→
Genetic liability to asthma and risk of cardiovascular diseases: A Mendelian randomization study.	Chen H et al.	—	2022	→
Genetic liability to obesity and peptic ulcer disease: a Mendelian randomization study.	Li Z et al.	—	2022	→
Genetic models and approaches to study orofacial clefts.	Leslie EJ	—	2022	→
Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.	Atkinson EG et al.	—	2022	→
Genetic variation of pharmacogenomic VIP variants in the Chinese Li population: an updated research.	Yang S et al.	—	2022	→
Genome interpretation using in silico predictors of variant impact.	Katsonis P et al.	—	2022	→
Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival.	Labadie JD et al.	—	2022	→
Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.	Kim Y et al.	—	2022	→
Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health.	Tissink E et al.	—	2022	→
Genome-wide association study of platelet factor 4/heparin antibodies in heparin-induced thrombocytopenia.	Giles JB et al.	—	2022	→
Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.	Moksnes MR et al.	—	2022	→
Genomic data integration and user-defined sample-set extraction for population variant analysis.	Alfonsi T et al.	—	2022	→
Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.	Terashima T et al.	—	2022	→
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.	Yassaee VR et al.	—	2022	→
Haplotype-resolved Chinese male genome assembly based on high-fidelity sequencing.	Yang X et al.	—	2022	→
Hepatocellular neoplasms with loss of liver fatty acid binding protein: Clinicopathologic features and molecular profiling.	Joseph NM et al.	—	2022	→
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.	Byrska-Bishop M et al.	—	2022	→
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.	Malcorps M et al.	—	2022	→
Human genetic diversity regulating the <i>TLR10/TLR1/TLR6</i> locus confers increased cytokines in response to <i>Chlamydia trachomatis</i>.	Barnes AB et al.	—	2022	→
<i>CFTR</i> mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.	Ghouchanatigh MD et al.	—	2022	→
<i>DEFB126</i> polymorphisms and association with idiopathic asthenozoospermia in China.	He JY et al.	—	2022	→
Identification of five genetic variants with differential effects on obesity-related traits based on age.	Chung JY et al.	—	2022	→
Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.	Fu R et al.	—	2022	→
Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.	de Mello LEB et al.	—	2022	→
Impact of ankylosing spondylitis on stroke limited to specific subtypes: Evidence from Mendelian randomization study.	Mei J et al.	—	2022	→
Imputation to whole-genome sequence and its use in genome-wide association studies for pork colour traits in crossbred and purebred pigs.	Heidaritabar M et al.	—	2022	→
Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.	Lebedeva A et al.	—	2022	→
Inferring population structure in biobank-scale genomic data.	Chiu AM et al.	—	2022	→
Influence of gonadal steroids on cortical surface area in infancy.	Alex AM et al.	—	2022	→
Influence of Insulin Receptor Single Nucleotide Polymorphisms on Glycaemic Control and Formation of Anti-Insulin Antibodies in Diabetes Mellitus.	Massarenti L et al.	—	2022	→
Insights Into Genome-Wide Association Study for Diabetes: A Bibliometric and Visual Analysis From 2001 to 2021.	Liu Y et al.	—	2022	→
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.	Fellner A et al.	—	2022	→
Integrating whole genome sequencing, methylation, gene expression, topological associated domain information in regulatory mutation prediction: A study of follicular lymphoma.	Farooq A et al.	—	2022	→
Introduction of medical genomics and clinical informatics integration for p-Health care.	Tong L et al.	—	2022	→
Life-Course Associations between Blood Pressure-Related Polygenic Risk Scores and Hypertension in the Bogalusa Heart Study.	Sun X et al.	—	2022	→
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.	Chander V et al.	—	2022	→
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.	Joseph CB et al.	—	2022	→
MetaPop: a pipeline for macro- and microdiversity analyses and visualization of microbial and viral metagenome-derived populations.	Gregory AC et al.	—	2022	→
Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.	Li J et al.	—	2022	→
Modifying Bacterial Artificial Chromosomes for Extended Genome Modification.	Auch H et al.	—	2022	→
Molecular Evolutionary Rate Predicts Intraspecific Genetic Polymorphism and Species-Specific Selection.	Wu J et al.	—	2022	→
Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities.	Katsumata Y et al.	—	2022	→
Multiplex structural variant detection by whole-genome mapping and nanopore sequencing.	Uppuluri L et al.	—	2022	→
Network-based analysis revealed significant interactions between risk genes of severe COVID-19 and host genes interacted with SARS-CoV-2 proteins.	Qi HX et al.	—	2022	→
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.	Karaer K et al.	—	2022	→
NGSpop: A desktop software that supports population studies by identifying sequence variations from next-generation sequencing data.	Lee DJ et al.	—	2022	→
No Genetic Causal Association Between Periodontitis and Arthritis: A Bidirectional Two-Sample Mendelian Randomization Analysis.	Yin KJ et al.	—	2022	→
Paving the Way: Contributions of Big Data to Apicomplexan and Kinetoplastid Research.	Kent RS et al.	—	2022	→
Periodontitis Risk Variants at <i>SIGLEC5</i> Impair ERG and MAFB Binding.	Mueller R et al.	—	2022	→
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.	Holt GS et al.	—	2022	→
PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine.	Shin J et al.	—	2022	→
Phenome-Wide Association Study of <i>UMOD</i> Gene Variants and Differential Associations With Clinical Outcomes Across Populations in the Million Veteran Program a Multiethnic Biobank.	Akwo EA et al.	—	2022	→
Phylogenomics of the world's otters.	de Ferran V et al.	—	2022	→
Polishing copy number variant calls on exome sequencing data via deep learning.	Özden F et al.	—	2022	→
Polyunsaturated Fatty Acids Level and Bone Mineral Density: A Two-Sample Mendelian Randomization Study.	Wang L et al.	—	2022	→
Profiling the quantitative occupancy of myriad transcription factors across conditions by modeling chromatin accessibility data.	Luo K et al.	—	2022	→
Prospects of Non-Coding Elements in Genomic DNA Based Gene Therapy.	Simna SP et al.	—	2022	→
Protective Effects of Circulating TIMP3 on Coronary Artery Disease and Myocardial Infarction: A Mendelian Randomization Study.	Chen H et al.	—	2022	→
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.	Petersen USS et al.	—	2022	→
Radiomic Analysis of Contrast-Enhanced MRI Predicts DNA Copy-Number Subtype and Outcome in Lower-Grade Gliomas.	Wan Y et al.	—	2022	→
Recovering High-Quality Host Genomes from Gut Metagenomic Data through Genotype Imputation.	Marcos S et al.	—	2022	→
Reduced penetrance of Parkinson's disease models.	Morais VA et al.	—	2022	→
Revisiting the embryogenesis of lip and palate development.	Hammond NL et al.	—	2022	→
RGMQL: scalable and interoperable computing of heterogeneous omics big data and metadata in R/Bioconductor.	Pallotta S et al.	—	2022	→
seGMM: A New Tool for Gender Determination From Massively Parallel Sequencing Data.	Liu S et al.	—	2022	→
Simultaneous Detection of Signal Regions Using Quadratic Scan Statistics With Applications to Whole Genome Association Studies.	Li Z et al.	—	2022	→
Single-Cell Analysis of the Transcriptome and Epigenome.	Mazan-Mamczarz K et al.	—	2022	→
SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS.	Yang W et al.	—	2022	→
Socioeconomic and genomic roots of verbal ability from current evidence.	Guo G et al.	—	2022	→
SORL1 Polymorphisms in Mexican Patients with Alzheimer's Disease.	Toral-Rios D et al.	—	2022	→
Splenic clearance of rigid erythrocytes as an inherited mechanism for splenomegaly and natural resistance to malaria.	Henry B et al.	—	2022	→
Stable inversion clines in a grasshopper species group despite complex geographical history.	Guzmán NV et al.	—	2022	→
Systematic assays and resources for the functional annotation of non-coding variants.	Kircher M et al.	—	2022	→
Testing the Ion AmpliSeq™ HID Y-SNP Research Panel v1 for performance and resolution in admixed South Americans of haplogroup Q.	Köksal Z et al.	—	2022	→
TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.	Agyemang K et al.	—	2022	→
The Genetic Echo of the Tarim Mummies in Modern Central Asians.	Dai SS et al.	—	2022	→
The interplay of additivity, dominance, and epistasis on fitness in a diploid yeast cross.	Matsui T et al.	—	2022	→
The Kinesin Gene <i>KIF26B</i> Modulates the Severity of Post-Traumatic Heterotopic Ossification.	Pickering GAE et al.	—	2022	→
The Peopling and Migration History of the Natives in Peninsular Malaysia and Borneo: A Glimpse on the Studies Over the Past 100 years.	Hoh BP et al.	—	2022	→
The properties of human disease mutations at protein interfaces.	Livesey BJ et al.	—	2022	→
The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans.	van Eeden G et al.	—	2022	→
The role of Neanderthal introgression in liver cancer.	Taravella Oill AM et al.	—	2022	→
The tissue-specificity associated region and motif of an emx2 downstream enhancer CNE2.04 in zebrafish.	Chen X et al.	—	2022	→
Three-nucleotide periodicity of nucleotide diversity in a population enables the identification of open reading frames.	Jiang M et al.	—	2022	→
Undergraduate laboratory series that employs a complete polymerase chain reaction-restriction fragment length polymorphism experiment for determination of a single nucleotide polymorphism in CYP2R1 gene.	Sedky NK et al.	—	2022	→
Unravelling the tumour genome: The evolutionary and clinical impacts of structural variants in tumourigenesis.	Hamdan A et al.	—	2022	→
Urinary CC16, a potential indicator of lung integrity and inflammation, increases in children after short-term exposure to PM<sub>2.5</sub>/PM<sub>10</sub> and is driven by the CC16 38GG genotype.	Nauwelaerts SJD et al.	—	2022	→
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.	Mahmud S et al.	—	2022	→
Variant interpretation using population databases: Lessons from gnomAD.	Gudmundsson S et al.	—	2022	→
Variation of Immune Cell Responses in Humans Reveals Sex-Specific Coordinated Signaling Across Cell Types.	Fragiadakis GK et al.	—	2022	→
Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.	Ferla MP et al.	—	2022	→
Whole Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke	Xie Y et al.	—	2022	—
Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System.	Zhu Q et al.	—	2022	→
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.	Saito K et al.	—	2021	→
Accelerated deciphering of the genetic architecture of agricultural economic traits in pigs using a low-coverage whole-genome sequencing strategy.	Yang R et al.	—	2021	→
Accurate, scalable cohort variant calls using DeepVariant and GLnexus.	Yun T et al.	—	2021	→
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.	Yu Y et al.	—	2021	→
A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics.	Chiu FP et al.	—	2021	→
Admixture with indigenous people helps local adaptation: admixture-enabled selection in Polynesians.	Isshiki M et al.	—	2021	→
Advances in bulk and single-cell multi-omics approaches for systems biology and precision medicine.	Li Y et al.	—	2021	→
A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis.	Jiang X et al.	—	2021	→
A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.	Pan Q et al.	—	2021	→
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.	Gemović B et al.	—	2021	→
Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness.	Muto V et al.	—	2021	→
A Method to Investigate the Helicobacter pylori-Associated DNA Methylome.	Woo HD et al.	—	2021	→
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer.	López de Maturana E et al.	—	2021	→
Analysis of the Batch Effect Due to Sequencing Center in Population Statistics Quantifying Rare Events in the 1000 Genomes Project.	Maceda I et al.	—	2021	→
An ancestral recombination graph of human, Neanderthal, and Denisovan genomes.	Schaefer NK et al.	—	2021	→
An atlas of CNV maps in cattle, goat and sheep.	Huang Y et al.	—	2021	→
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.	Warshauer EM et al.	—	2021	→
Ancestry inference using reference labeled clusters of haplotypes.	Wang Y et al.	—	2021	→
A novel nonlinear dimension reduction approach to infer population structure for low-coverage sequencing data.	Zhang M et al.	—	2021	→
A novel SRD5A2 mutation in an Iranian family with sex development disorder.	Hashemi-Gorji F et al.	—	2021	→
Applications of Community Detection Algorithms to Large Biological Datasets.	Kanter I et al.	—	2021	→
Applications of Single-Cell DNA Sequencing.	Evrony GD et al.	—	2021	→
Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics.	Ashrafuzzaman M	—	2021	→
A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.	Han B et al.	—	2021	→
Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome.	Yao Y et al.	—	2021	→
Assessing the performance of qpAdm: a statistical tool for studying population admixture.	Harney É et al.	—	2021	→
Associations between efavirenz concentrations, pharmacogenetics and neurocognitive performance in people living with HIV in Nigeria.	Nwogu JN et al.	—	2021	→
Assumptions about frequency-dependent architectures of complex traits bias measures of functional enrichment.	Zabad S et al.	—	2021	→
Bayesian model comparison for rare-variant association studies.	Venkataraman GR et al.	—	2021	→
Benchmarking germline CNV calling tools from exome sequencing data.	Gordeeva V et al.	—	2021	→
BGISEQ-500RS sequencing of a 448-plex SNP panel for forensic individual identification and kinship analysis.	Zhao GB et al.	—	2021	→
BigFiRSt: A Software Program Using Big Data Technique for Mining Simple Sequence Repeats From Large-Scale Sequencing Data.	Chen J et al.	—	2021	→
Birth weight and adult income: An examination of mediation through adult height and body mass.	Pehkonen J et al.	—	2021	→
Characterisation of dysplastic liver nodules using low-pass DNA sequencing and detection of chromosome arm-level abnormalities in blood-derived cell-free DNA.	Fateen W et al.	—	2021	→
Childhood adversity correlates with stable changes in DNA methylation trajectories in children and converges with epigenetic signatures of prenatal stress.	Martins J et al.	—	2021	→
Chromosome-scale genomes provide new insights into subspecies divergence and evolutionary characteristics of the giant panda.	Guang X et al.	—	2021	→
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.	Nouri N et al.	—	2021	→
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.	Brunetti-Pierri R et al.	—	2021	→
Combined effects of genotype and childhood adversity shape variability of DNA methylation across age.	Czamara D et al.	—	2021	→
Comparison of Structural and Short Variants Detected by Linked-Read and Whole-Exome Sequencing in Multiple Myeloma.	Kumar A et al.	—	2021	→
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.	Siavrienė E et al.	—	2021	→
Computational and Mass Spectrometry-Based Approach Identify Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) in JMJD6.	Gong T et al.	—	2021	→
Copy Number Variation Identification on 3,800 Alzheimer's Disease Whole Genome Sequencing Data from the Alzheimer's Disease Sequencing Project.	Lee WP et al.	—	2021	→
Correlated and geographically predictable Neanderthal and Denisovan legacies are difficult to reconcile with a simple model based on inter-breeding.	Amos W	—	2021	→
Coupling between Sequence-Mediated Nucleosome Organization and Genome Evolution.	Barbier J et al.	—	2021	→
CSVS, a crowdsourcing database of the Spanish population genetic variability.	Peña-Chilet M et al.	—	2021	→
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing.	Di Resta C et al.	—	2021	→
dbMCS: A Database for Exploring the Mutation Markers of Anti-Cancer Drug Sensitivity.	Shen Y et al.	—	2021	→
Development of polymorphic markers in the immune gene complex loci of cattle.	Bakshy K et al.	—	2021	→
Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.	Ibba A et al.	—	2021	→
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.	Field MJ et al.	—	2021	→
Discovery of genomic variation across a generation.	Trost B et al.	—	2021	→
Dissecting autism and schizophrenia through neuroimaging genomics.	Moreau CA et al.	—	2021	→
Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.	Huang X et al.	—	2021	→
Dissecting single-cell genomes through the clonal organoid technique.	Youk J et al.	—	2021	→
Distinguishing HapMap Accessions Through Recursive Set Partitioning in Hierarchical Decision Trees.	Zhang W et al.	—	2021	→
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.	Kim YJ et al.	—	2021	→
Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.	Gunadi et al.	—	2021	→
Effects of Randomized Controlled Infancy-Onset Dietary Intervention on Leukocyte Telomere Length-The Special Turku Coronary Risk Factor Intervention Project (STRIP).	Pitkänen N et al.	—	2021	→
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.	Susak H et al.	—	2021	→
EigenGWAS: An online visualizing and interactive application for detecting genomic signatures of natural selection.	Qi GA et al.	—	2021	→
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.	Pang H et al.	—	2021	→
Enhancer redundancy in development and disease.	Kvon EZ et al.	—	2021	→
ERICH3: vesicular association and antidepressant treatment response.	Liu D et al.	—	2021	→
Estimating FST and kinship for arbitrary population structures.	Ochoa A et al.	—	2021	→
Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.	Ragazzo M et al.	—	2021	→
Exome variant discrepancies due to reference-genome differences.	Li H et al.	—	2021	→
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.	Zhao X et al.	—	2021	→
Exploring the causal inference of shear stress associated DNA methylation in carotid plaque on cardiovascular risk.	Methorst R et al.	—	2021	→
FANCY: fast estimation of privacy risk in functional genomics data.	Gürsoy G et al.	—	2021	→
Fast alignment of reads to a variation graph with application to SNP detection.	Monsu M et al.	—	2021	→
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection.	Esoh KK et al.	—	2021	→
Full Chromosomal Relationships Between Populations and the Origin of Humans.	Dong R et al.	—	2021	→
Genetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid Hemorrhage.	Acosta JN et al.	—	2021	→
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.	Fang X et al.	—	2021	→
Genetic ancestry and skeletal toxicities among childhood acute lymphoblastic leukemia patients in the DFCI 05-001 cohort.	Yao S et al.	—	2021	→
Genetic Associations with Weight Gain among South Africans who Initiated Dolutegravir-Containing and Tenofovir-Containing Regimens.	Cindi Z et al.	—	2021	→
Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants.	Baas FS et al.	—	2021	→
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.	Kim YN et al.	—	2021	→
Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.	Chen S et al.	—	2021	→
Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population.	Zhang L et al.	—	2021	→
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.	Long X et al.	—	2021	→
Genetic Variation and the Distribution of Variant Types in the Horse.	Durward-Akhurst SA et al.	—	2021	→
Genome-wide analyses of smoking behaviors in schizophrenia: Findings from the Psychiatric Genomics Consortium.	Peterson RE et al.	—	2021	→
Genome-Wide Association Analysis of Neonatal White Matter Microstructure.	Zhang J et al.	—	2021	→
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.	Imamura M et al.	—	2021	→
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.	Simcoe M et al.	—	2021	→
Genome-wide copy number variations in a large cohort of bantu African children.	Yilmaz F et al.	—	2021	→
Genome-Wide Linkage and Association Study of Childhood Gender Nonconformity in Males.	Sanders AR et al.	—	2021	→
Genome-wide methylation data improves dissection of the effect of smoking on body mass index.	Amador C et al.	—	2021	→
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.	Liu G et al.	—	2021	→
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping.	Ahmed Z et al.	—	2021	→
GWAS-Top Polymorphisms Associated With Late-Onset Alzheimer Disease in Brazil: Pointing Out Possible New Culprits Among Non-Coding RNAs.	Kretzschmar GC et al.	—	2021	→
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.	Ebert P et al.	—	2021	→
Haplotype tagging reveals parallel formation of hybrid races in two butterfly species.	Meier JI et al.	—	2021	→
High Response Rate and Durability Driven by HLA Genetic Diversity in Patients with Kidney Cancer Treated with Lenvatinib and Pembrolizumab.	Lee CH et al.	—	2021	→
High-throughput phenotyping methods for quantifying hair fiber morphology.	Lasisi T et al.	—	2021	→
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.	Chen Z et al.	—	2021	→
HySec-Flow: Privacy-Preserving Genomic Computing with SGX-based Big-Data Analytics Framework.	Widanage C et al.	—	2021	→
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.	Yang Y et al.	—	2021	→
Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants.	Hegron A et al.	—	2021	→
Identification of novel functional CpG-SNPs associated with Type 2 diabetes and birth weight.	Liu RK et al.	—	2021	→
Identifying disease-causing mutations with privacy protection.	Akgün M et al.	—	2021	→
<i>In Silico</i> Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review.	Yazar M et al.	—	2021	→
Improved genetic prediction of complex traits from individual-level data or summary statistics.	Zhang Q et al.	—	2021	→
Increasing the resolution and precision of psychiatric genome-wide association studies by re-imputing summary statistics using a large, diverse reference panel.	Chatzinakos C et al.	—	2021	→
Inferring recombination patterns in African populations.	van Eeden G et al.	—	2021	→
Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways.	Damena D et al.	—	2021	→
Integrating brain imaging endophenotypes with GWAS for Alzheimer's disease.	Knutson KA et al.	—	2021	→
Integration of Multiple-Omics Data to Analyze the Population-Specific Differences for Coronary Artery Disease.	Hu Y et al.	—	2021	→
Inter-Individual Variation and Cardioprotection in Anthracycline-Induced Heart Failure.	Norton N et al.	—	2021	→
Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs.	Sakurai-Yageta M et al.	—	2021	→
JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.	Ahmed Z et al.	—	2021	→
Knowledge graphs and their applications in drug discovery.	MacLean F	—	2021	→
Large-scale genome-wide study reveals climate adaptive variability in a cosmopolitan pest.	Chen Y et al.	—	2021	→
LncRNA MALAT1 promotes breast cancer progression and doxorubicin resistance via regulating miR-570-3p.	Yue X et al.	—	2021	→
Long-read technologies identify a hidden inverted duplication in a family with choroideremia.	Fadaie Z et al.	—	2021	→
Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants.	Mahlich Y et al.	—	2021	→
Making Sense of Genetic Information: The Promising Evolution of Clinical Stratification and Precision Oncology Using Machine Learning.	Baptiste M et al.	—	2021	→
Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than <i>BRCA1</i> or <i>BRCA2</i>.	Robson M	—	2021	→
Mapping leprosy-associated coding variants of interleukin genes by targeted sequencing.	Zhang DF et al.	—	2021	→
Mapping the human genetic architecture of COVID-19.	COVID-19 Host Genetics Initiative	—	2021	→
MARS: leveraging allelic heterogeneity to increase power of association testing.	Hormozdiari F et al.	—	2021	→
Megabase-scale presence-absence variation with Tripsacum origin was under selection during maize domestication and adaptation.	Huang Y et al.	—	2021	→
Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when.	Galano-Frutos JJ et al.	—	2021	→
Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.	Kapoor A et al.	—	2021	→
Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.	Kaiser VB et al.	—	2021	→
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.	Zacchia M et al.	—	2021	→
New neural network classification method for individuals ancestry prediction from SNPs data.	Soumare H et al.	—	2021	→
Novel compound heterozygous missense variants (c.G955A and c.A1822C) of <i>CACNA2D4</i> likely causing autosomal recessive retinitis pigmentosa in a Chinese patient.	Cheng J et al.	—	2021	→
Novel In-Frame Deletion in <i>HTRA1</i> Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study.	Grigaitė J et al.	—	2021	→
Omics technologies in personalized combination therapy for cardiovascular diseases: challenges and opportunities.	Banerjee S et al.	—	2021	→
On the use of whole-genome sequence data for across-breed genomic prediction and fine-scale mapping of QTL.	Meuwissen T et al.	—	2021	→
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.	Sabatella M et al.	—	2021	→
PanSVR: Pan-Genome Augmented Short Read Realignment for Sensitive Detection of Structural Variations.	Li G et al.	—	2021	→
Paths and timings of the peopling of Polynesia inferred from genomic networks.	Ioannidis AG et al.	—	2021	→
Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.	Sánchez-Tejerina D et al.	—	2021	→
PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data.	Zhou J et al.	—	2021	→
Placental genomic risk scores and early neurodevelopmental outcomes.	Ursini G et al.	—	2021	→
Population structure and relatedness estimates in a Mexican sample.	Colistro V et al.	—	2021	→
Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation.	Khurshid S et al.	—	2021	→
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.	Parikh VN	—	2021	→
Proteogenomic and metabolomic characterization of human glioblastoma.	Wang LB et al.	—	2021	→
Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry.	Wenric S et al.	—	2021	→
Reconstructing 50,000 years of human history from our DNA: lessons from modern genomics.	Rotival M et al.	—	2021	→
Relationship Between Serum Amino Acid Levels and Bone Mineral Density: A Mendelian Randomization Study.	Cui Z et al.	—	2021	→
Relevant SARS-CoV-2 Genome Variation through Six Months of Worldwide Monitoring.	Hakmaoui A et al.	—	2021	→
Resource-efficient pooled sequencing expands translational impact in solid tumors.	DiNatale RG et al.	—	2021	→
Resource profile and user guide of the Polygenic Index Repository.	Becker J et al.	—	2021	→
Response and Toxicity to Cytarabine Therapy in Leukemia and Lymphoma: From Dose Puzzle to Pharmacogenomic Biomarkers.	Di Francia R et al.	—	2021	→
Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.	Qassim A et al.	—	2021	→
Role of Sex on the Genetic Susceptibility to Childhood Asthma in Latinos and African Americans.	Espuela-Ortiz A et al.	—	2021	→
Role of SNPs in the Biogenesis of Mature miRNAs.	Wang Y et al.	—	2021	→
Rostral middle frontal gyrus thickness mediates the relationship between genetic risk and neuroticism trait.	Song L et al.	—	2021	→
Schizophrenia polygenic risk scores in youth mental health: preliminary associations with diagnosis, clinical stage and functioning.	Crouse JJ et al.	—	2021	→
SCSit: A high-efficiency preprocessing tool for single-cell sequencing data from SPLiT-seq.	Luan MW et al.	—	2021	→
Severe COVID-19 in Alzheimer's disease: APOE4's fault again?	Xiong N et al.	—	2021	→
Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics.	Darrous L et al.	—	2021	→
SINE jumping contributes to large-scale polymorphisms in the pig genomes.	Chen C et al.	—	2021	→
SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads.	Yan C et al.	—	2021	→
Strategies to Identify Genetic Variants Causing Infertility.	Ding X et al.	—	2021	→
Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes.	Chen J et al.	—	2021	→
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias.	Hikino K et al.	—	2021	→
Synonymous and non-synonymous polymorphisms in toll-like receptor 2 (TLR2) gene among complicated measles cases at a tertiary care hospital, Peshawar, Pakistan.	Ilyas M et al.	—	2021	→
Systematic comparative study of computational methods for HLA typing from next-generation sequencing.	Yu Y et al.	—	2021	→
Systematic Evaluation of a Novel 6-dye Direct and Multiplex PCR-CE-Based InDel Typing System for Forensic Purposes.	Fan H et al.	—	2021	→
Targeted genomic analysis of 364 adrenocortical carcinomas.	Pozdeyev N et al.	—	2021	→
The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory.	Min YK et al.	—	2021	→
The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes.	Zhou H et al.	—	2021	→
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.	da Rocha JEB et al.	—	2021	→
The major genetic risk factor for severe COVID-19 does not show any association among South Asian populations.	Singh PP et al.	—	2021	→
The Need for a Human Pangenome Reference Sequence.	Miga KH et al.	—	2021	→
The need for precision nutrition, genetic variation and resolution in Covid-19 patients.	Simopoulos AP et al.	—	2021	→
The Role of Structural Variation in Adaptation and Evolution of Yeast and Other Fungi.	Gorkovskiy A et al.	—	2021	→
The transcription factors CREBH, PPARa, and FOXO1 as critical hepatic mediators of diet-induced metabolic dysregulation.	Yang Z et al.	—	2021	→
Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults.	Li B et al.	—	2021	→
Twin studies to GWAS: there and back again.	Friedman NP et al.	—	2021	→
Two-Sample Mendelian Randomization Analysis of Associations Between Periodontal Disease and Risk of Cancer.	Corlin L et al.	—	2021	→
Type 2 Diabetes and Cognitive Status in the Health and Retirement Study: A Mendelian Randomization Approach.	Ware EB et al.	—	2021	→
Understanding three-dimensional chromatin organization in diploid genomes.	Li J et al.	—	2021	→
Us and them: From prejudice to racism. An original analysis of race and racism.	Heyer E et al.	—	2021	→
usDSM: a novel method for deleterious synonymous mutation prediction using undersampling scheme.	Tang X et al.	—	2021	→
Vaccine genetics of IGHV1-2 VRC01-class broadly neutralizing antibody precursor naïve human B cells.	Lee JH et al.	—	2021	→
Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.	Yang Z et al.	—	2021	→
VariantStore: an index for large-scale genomic variant search.	Pandey P et al.	—	2021	→
Whole-exome sequencing reveals novel vacuolar ATPase genes' variants and variants in genes involved in lysosomal biology and autophagosomal formation in oral granular cell tumors.	França JA et al.	—	2021	→
Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus.	Zhou X et al.	—	2021	→
Whole genome copy number analyses reveal a highly aberrant genome in TP53 mutant lung adenocarcinoma tumors.	Bjaanæs MM et al.	—	2021	→
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.	Khan S et al.	—	2021	→
Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins.	Juhari WKW et al.	—	2021	→
Whole-genome sequencing data of Kazakh individuals.	Kairov U et al.	—	2021	→
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits.	Thareja G et al.	—	2021	→
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.	Bai J et al.	—	2021	→
Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms.	Si Y et al.	—	2021	→
Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.	Batra SS et al.	—	2020	→
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.	Buckley RM et al.	—	2020	→
A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis.	Shand M et al.	—	2020	→
Bidirectional Causal Associations Between Inflammatory Bowel Disease and Ankylosing Spondylitis: A Two-Sample Mendelian Randomization Analysis.	Cui Z et al.	—	2020	→
Candidate Gene Analysis Reveals Strong Association of <i>CETP</i> Variants With High Density Lipoprotein Cholesterol and <i>PCSK9</i> Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study.	Agongo G et al.	—	2020	→
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.	Kim YN et al.	—	2020	→
Clinical Interpretation and Management of Genetic Variants.	Marian AJ	—	2020	→
CloneSifter: enrichment of rare clones from heterogeneous cell populations.	Feldman D et al.	—	2020	→
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.	Tabbarah S et al.	—	2020	→
Data Sanitization to Reduce Private Information Leakage from Functional Genomics.	Gürsoy G et al.	—	2020	→
Differential admixture in Latin American populations and its impact on the study of colorectal cancer.	Colistro V et al.	—	2020	→
Effect of <i>EGLN1</i> Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders.	Yasukochi Y et al.	—	2020	→
Genome-wide association studies of antidepressant class response and treatment-resistant depression.	Li QS et al.	—	2020	→
Genomic Mutations of Primary and Metastatic Lung Adenocarcinoma in Chinese Patients.	Chen X et al.	—	2020	→
<i>GJA1</i> Gene Polymorphisms and Topographic Distribution of Cranial MRI Lesions in Cerebral Small Vessel Disease.	Zhang J et al.	—	2020	→
INDEL detection, the 'Achilles heel' of precise genome editing: a survey of methods for accurate profiling of gene editing induced indels.	Bennett EP et al.	—	2020	→
Meta-analysis investigating the role of interleukin-6 mediated inflammation in type 2 diabetes.	Bowker N et al.	—	2020	→
Modeling of variables in cellular infection reveals CXCL10 levels are regulated by human genetic variation and the Chlamydia-encoded CPAF protease.	Schott BH et al.	—	2020	→
NCMHap: a novel method for haplotype reconstruction based on Neutrosophic c-means clustering.	Zamani F et al.	—	2020	→
ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls.	Biggs H et al.	—	2020	→
Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression.	Vanderpool D et al.	—	2020	→
Red panda: a novel method for detecting variants in single-cell RNA sequencing.	Cornish A et al.	—	2020	→
Resource conservation manifests in the genetic code.	Shenhav L et al.	—	2020	→
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.	Di Iorio V et al.	—	2020	→
Stairway Plot 2: demographic history inference with folded SNP frequency spectra.	Liu X et al.	—	2020	→
The association of clinical phenotypes to known AD/FTD genetic risk loci and their inter-relationship.	Li QS et al.	—	2020	→
The association of genetic polymorphisms with nonalcoholic fatty liver disease in a longitudinal study.	Chung GE et al.	—	2020	→
Type 2 Diabetes and Glycemic Traits Are Not Causal Factors of Osteoarthritis: A Two-Sample Mendelian Randomization Analysis.	Cui Z et al.	—	2020	→
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.	Newell F et al.	—	2020	→