Finding the missing heritability of complex diseases.

paper Cited Public

#	Section	Preview
0	Heritability and allelic architecture of complex traits	It is reasonable to assume that allelic architecture (number, type, effect size and frequency of…
1	Heritability and allelic architecture of complex traits	Population genetic theory suggests an explanation for the paucity of variants explaining a large…
2	Heritability and allelic architecture of complex traits	Selection might also be responsible for keeping genetic effect sizes low, as variants of larger…
3	Heritability and allelic architecture of complex traits	A probable contributor to the small genetic effect sizes observed so far is that current…
4	Heritability and allelic architecture of complex traits	An important consideration is that the overwhelming majority of GWAS and other genetic studies have…
5	Heritability and allelic architecture of complex traits	The accuracy of current heritability estimates is also important, because experimentally identified…
6	Heritability and allelic architecture of complex traits	Teasing apart the contributions to heritability of environmental factors shared among relatives will…
7	Heritability and allelic architecture of complex traits	Improving estimates of all contributors to heritability will facilitate determination of the…
8	Rare variants and unexplained heritability	Much of the speculation about missing heritability from GWAS has focused on the possible…
9	Rare variants and unexplained heritability	Low frequency variants could have substantial effect sizes (increasing disease risk two- to…
10	Rare variants and unexplained heritability	The primary technology for the detection of rare SNPs is sequencing, which may target regions of…
11	Rare variants and unexplained heritability	Current mechanisms for using sequencing to identify rare variants underlying or co-located with…
12	Rare variants and unexplained heritability	Sample sizes used for the initial identification of DNA sequence variants have generally been…
13	Rare variants and unexplained heritability	Complicating matters further, numerous rare variants may be detected in a gene or region but they…
14	Rare variants and unexplained heritability	Determining which of the multitude of variants carried by an individual are responsible for a given…
15	Rare variants and unexplained heritability	The sheer number of inter-individual differences, mostly rare, to be detected by whole-genome…
16	Structural variation and unexplained heritability	Structural variation, including copy number variants (CNVs, such as insertions and deletions) and…
17	Structural variation and unexplained heritability	Variation due to CNVs arises from a combination of rare and common alleles; as with SNPs most…
18	Structural variation and unexplained heritability	Several approaches have been developed for integrating analysis of CNVs into GWAS, including…
19	Structural variation and unexplained heritability	Many GWA data sets already have sufficient genotype and intensity information to permit calling of…

Name	Type
1,000 Genomes local	cohort
1000 Genomes Project	cohort
ABCA1	gene
Actual phenotype local	phenotype
age at onset	phenotype
age-related macular degeneration	phenotype
ancestry	phenotype
animals	cohort
Artificial selection local	drug
autism spectrum disorders	phenotype
body weight	phenotype
Case-control comparison local	cohort
causal variants	cohort
CNP	variant
CNV	variant
CNVs	variant
common variants	cohort
Comparison population local	cohort
complex diseases	phenotype
Complex rearrangement local	variant
complex traits	phenotype
copy number variant	variant
copy number variation	variant
Crohn’s disease	phenotype
de novo variant	variant
disease	phenotype
disease risk	phenotype
Disease_Risk local	phenotype
DNA sequence variants local	variant
epistatic loci local	variant
European population	cohort
extreme phenotype local	phenotype
extreme phenotypes local	phenotype
families	cohort
gene–gene interactions local	phenotype
general population	cohort
Genetic variance	phenotype
genetic variants	cohort
Genetic_Variants local	variant
GWA data sets local	cohort
GWAS	cohort
height	phenotype
heritability	phenotype
high-density GWA scans local	cohort
high-density SNP data local	variant
Human disease local	phenotype
immune-mediated diseases local	phenotype
immune-related genes	gene
insertion	variant
insulin therapy local	drug
inversion	variant
isolated populations	cohort
large number of identified variants local	variant
large rare CNVs	variant
large, well-phenotyped groups and families local	cohort
LDLR	gene
linkage data local	cohort
lipid level local	phenotype
lipid levels	phenotype
loss-of-function allele local	variant
low frequency variant local	variant
low-frequency variant	variant
marker SNPs local	variant
Mendelian dyslipidemias local	phenotype
Microsatellite repeat expansion local	variant
missing heritability	phenotype
monogenic condition local	phenotype
narrow-sense heritability	phenotype
Neuropsychiatric and Developmental Conditions local	phenotype
neuropsychiatric disorders	phenotype
new variants local	variant
non-additive genetic effects	cohort
non-coding variant	cohort
non-European ancestry	cohort
non-structural single nucleotide sequence variants local	variant
parent-of-origin-specific effects local	phenotype
PCSK9	gene
pedigrees	cohort
Pedigree studies local	cohort
phenotype	phenotype
populations of recent African ancestry local	cohort
Predicted phenotype	phenotype
predictive variants local	variant
predisposition genes local	gene
prognosis	phenotype
Rare Mendelian condition local	phenotype
rare variant	cohort
reproductive fitness local	phenotype
risk allele	cohort
siblings	cohort
single nucleotide polymorphism	variant
small number of common variants of large effect local	variant
SNP	cohort
statins	drug
structural variant	cohort
subtle phenotypic effects local	phenotype
trait	phenotype
Trait-associated markers local	variant
translocation	variant
treatment response	phenotype
Treatment_Response local	phenotype
type 1 diabetes	phenotype
type 2 diabetes	phenotype
unique variants local	variant
well-studied traits local	phenotype

Citation	PMID	DOI	Status
	—	—	—
Abecasis, GR, Biology of Genomes, 2009, The 1000 Genomes Project: analysis of pilot datasets	—	—	—
Abrahams, BS et al., Nature Rev. Genet, 2008, Advances in autism genetics: on the threshold of a new neurobiology	18414403	10.1038/nrg2346	Cited
Ahmed, S, Nature Genet, 2009, Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2	19330027	10.1038/ng.354	Cited
Altmüller, J et al., Am. J. Hum. Genet, 2001, Genome-wide scans of complex human diseases: true linkage is hard to find	11565063	10.1086/324069	Cited
Barrett, JC, Nature Genet, 2008, Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease	18587394	10.1038/NG.175	Cited
Barrett, JC, Nature Genet, 2009, Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes	19430480	10.1038/ng.381	Cited
Bassett, AS et al., Hum. Mol. Genet, 2008, Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome	18806272	10.1093/hmg/ddn307	Cited
Campbell, MC et al., Annu. Rev. Genomics Hum. Genet, 2008, African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping	18593304	10.1146/annurev.genom.9.081307.164258	Cited
Clayton, DG, PLoS Genet, 2009, Prediction and interaction in complex disease genetics: experience in type 1 diabetes	19584936	10.1371/journal.pgen.1000540	Cited
Cohen, JC, Proc. Natl Acad. Sci. USA, 2006, Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels	16449388	10.1073/pnas.0508483103	Cited
Collins, FS et al., Science, 1997, Variations on a theme: cataloging human DNA sequence variation	9411782	10.1126/science.278.5343.1580	Cited
Collins, FS, Am. J. Hum. Genet, 2006, No longer just looking under the lamppost	16909378	10.1086/507611	Cited
Cooper, JD, Nature Genet, 2008, Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci	18978792	10.1038/ng.249	Cited
Corder, EH, Science, 1993, Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families	8346443	10.1126/science.8346443	Cited
Crawford, MH, Anthropological Genetics: Theory, Methods and Applications, 2006	—	—	—
de Cid, R, Nature Genet, 2009, Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis	19169253	10.1038/ng.313	Cited
de Vries, BB, Am. J. Hum. Genet, 2005, Diagnostic genome profiling in mental retardation	16175506	10.1086/491719	Cited
Falconer, DS et al., Introduction to Quantitative Genetics Addison, 1996	—	—	—
Gibson, G et al., Bioessays, 2000, Canalization in evolutionary genetics: a stabilizing theory?	10723034	10.1002/(SICI)1521-1878(200004)22:4<372::AID-BIES7>3.0.CO;2-J	Cited
Gibson, G, Nature Rev. Genet, 2009, Decanalization and the origin of complex disease	19119265	10.1038/nrg2502	Cited
Haiman, CA, Nature Genet, 2007, Multiple regions within 8q24 independently affect risk for prostate cancer	17401364	10.1038/ng2015	Cited
Hardy, J et al., N. Engl. J. Med, 2009, Genomewide association studies and human disease	19369657	10.1056/NEJMra0808700	Cited
Helbig, I, Nature Genet, 2009, 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy	19136953	10.1038/ng.292	Cited
Hindorff, LA et al., A catalog of published genome-wide association studies	—	—	—
Hirschhorn, JN et al., Genet. Med, 2002, A comprehensive review of genetic association studies	11882781	10.1097/00125817-200203000-00002	Cited
Jakobsdottir, J et al., PLoS Genet, 2009, Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers	19197355	10.1371/journal.pgen.1000337	Cited
Kathiresan, S, Nature Genet, 2008, Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans	18193044	10.1038/ng.75	Cited
Kathiresan, S, Nature Genet, 2009, Common variants at 30 loci contribute to polygenic dyslipidemia	19060906	10.1038/ng.291	Cited
Keller, MC et al., Behav. Brain Sci, 2006, Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?	17094843	10.1017/S0140525X06009095	Cited
Khoury, MJ, Genet. Med, 2009, The scientific foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop	19617843	10.1097/GIM.0b013e3181b13a6c	Cited
Kidd, JM, Nature, 2008, Mapping and sequencing of structural variation from eight human genomes	18451855	10.1038/nature06862	Cited
Kong, A, Nature Genet, 2008, Detection of sharing by descent, long-range phasing and haplotype imputation	19165921	10.1038/ng.216	Cited
Kotowski, IK, Am. J. Hum. Genet, 2006, A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol	16465619	10.1086/500615	Cited
Lee, SH et al., PLoS Genet, 2008, Predicting unobserved phenotypes for complex traits from whole-genome SNP data	18949033	10.1371/journal.pgen.1000231	Cited
Li, B et al., Am. J. Hum. Genet, 2008, Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data	18691683	10.1016/j.ajhg.2008.06.024	Cited
Lifton, RP, Harvey Lect, 2004, Genetic dissection of human blood pressure variation: common pathways from rare phenotypes	16970175	—	Cited
Lord, C et al., Neuron, 2000, Autism spectrum disorders	11144346	10.1016/s0896-6273(00)00115-x	Cited
Lusis, AJ et al., Nature Genet, 2008, A treasure trove for lipoprotein biology	18227868	10.1038/ng0208-129	Cited
MacLean, CJ et al., Am. J. Hum. Genet, 1993, Joint linkage of multiple loci for a complex disorder	8328454	—	Cited
Maher, B, Nature, 2008, Personal genomes: The case of the missing heritability	18987709	10.1038/456018a	Cited
Maller, J, Nature Genet, 2006, Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration	16936732	10.1038/ng1873	Cited
Mardis, ER, Trends Genet, 2008, The impact of next-generation sequencing technology on genetics	18262675	10.1016/j.tig.2007.12.007	Cited
McCarroll, SA, Hum. Mol. Genet, 2008, Extending genome-wide association studies to copy-number variation	18852202	10.1093/hmg/ddn282	Cited
McCarroll, SA, Nature Genet, 2008, Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease	19165925	10.1038/ng.215	Cited
McCarthy, MI, Nature Rev. Genet, 2008, Genome-wide association studies for complex traits: consensus, uncertainty and challenges	18398418	10.1038/nrg2344	Cited
Mefford, HC, N. Engl. J. Med, 2008, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	18784092	10.1056/NEJMoa0805384	Cited
Meuwissen, TH et al., Genetics, 2001, Prediction of total genetic value using genome-wide dense marker maps	11290733	10.1093/genetics/157.4.1819	Cited
Nature Genet, 2008, Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci	18204446	10.1038/ng.81	Cited
Nature Genet, 2009, Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants	19198609	10.1038/ng.327	Cited
Nature, 2007, A second generation human haplotype map of over 3.1 million SNPs	17943122	10.1038/nature06258	Cited
Nature, 2008, Rare chromosomal deletions and duplications increase risk of schizophrenia	18668038	10.1038/nature07239	Cited
Pearson, TA et al., J. Am. Med. Assoc, 2008, How to interpret a genome-wide association study	18349094	10.1001/jama.299.11.1335	Cited
Pharoah, PD et al., N. Engl. J. Med, 2008, Polygenes, risk prediction, and targeted prevention of breast cancer	18579814	10.1056/NEJMsa0708739	Cited
Pritchard, JK et al., Hum. Mol. Genet, 2002, The allelic architecture of human disease genes: common disease-common variant.or not?	12351577	10.1093/hmg/11.20.2417	Cited
Pritchard, JK, Am. J. Hum. Genet, 2001, Are rare variants responsible for susceptibility to common diseases?	11404818	10.1086/321272	Cited
Prokopenko, I, Nature Genet, 2009, Variants in MTNR1B influence fasting glucose levels	19060907	10.1038/ng.290	Cited
Reich, DE et al., Trends Genet, 2001, On the allelic spectrum of human disease	11525833	10.1016/s0168-9525(01)02410-6	Cited
Risch, N et al., Science, 1996, The future of genetic studies of complex human diseases	8801636	10.1126/science.273.5281.1516	Cited
Risch, NJ, Nature, 2000, Searching for genetic determinants in the new millennium	10866211	10.1038/35015718	Cited
Roeder, K et al., Am. J. Hum. Genet, 2006, Using linkage genome scans to improve power of association in genome scans	16400608	10.1086/500026	Cited
Romeo, S, Nature Genet, 2007, Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL	17322881	10.1038/ng1984	Cited
Sabatti, C, Nature Genet, 2009, Genome-wide association analysis of metabolic traits in a birth cohort from a founder population	19060910	10.1038/ng.271	Cited
Scherer, SW, Nature Genet, 2007, Challenges and standards in integrating surveys of structural variation	17597783	10.1038/ng2093	Cited
Sebat, J, Science, 2007, Strong association of de novo copy number mutations with autism	17363630	10.1126/science.1138659	Cited
Sharp, AJ, Nature Genet, 2008, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures	18278044	10.1038/ng.93	Cited
Stefansson, H, Nature, 2008, Large recurrent microdeletions associated with schizophrenia	18668039	10.1038/nature07229	Cited
Thomas, A et al., Ann. Hum. Genet, 2008, A. Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays	18093282	10.1111/j.1469-1809.2007.00406.x	Cited
Todd, JA, Nature Genet, 2006, Statistical false positive or true disease pathway?	16804532	10.1038/ng0706-731	Cited
Visscher, PM, Nature Genet, 2008, Sizing up human height variation	18443579	10.1038/ng0508-489	Cited
Visscher, PM, PLoS Genet, 2006, Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings	16565746	10.1371/journal.pgen.0020041	Cited
Waters, KM, Cancer Epidemiol. Biomarkers Prev, 2009, Generalizability of associations from prostate cancer genome-wide association studies in multiple populations	19318432	10.1158/1055-9965.EPI-08-1142	Cited
Weiss, LA, N. Engl. J. Med, 2008, Association between microdeletion and microduplication at 16p11.2 and autism	18184952	10.1056/NEJMoa075974	Cited
Willer, CJ, Nature Genet, 2009, Six new loci associated with body mass index highlight a neuronal influence on body weight regulation	19079261	10.1038/ng.287	Cited
Xu, B, Nature Genet, 2008, Strong association of de novo copy number mutations with sporadic schizophrenia	18511947	10.1038/ng.162	Cited
Yasuda, K, Nature Genet, 2008, Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus	18711367	10.1038/ng.207	Cited
Zeggini, E, Nature Genet, 2008, Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes	18372903	10.1038/ng.120	Cited
Zhao, J et al., Am. J. Hum. Genet, 2006, Test for interaction between two unlinked loci	17033960	10.1086/508571	Cited
Zheng, W, Nature Genet, 2009, Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1	19219042	10.1038/ng.318	Cited

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Genome-wide association studies (GWAS) in 2026: From gene hunting to biological discovery in endocrine and cardiometabolic diseases.	Berrandou TE	—	2026	→
Genome-wide rare copy number variations potentially associated with drug resistance in epilepsy.	Chakraborty A et al.	—	2026	→
Genomic Perspective on Heterogeneity of Organs and Body Aging.	Salimi S et al.	—	2026	→
Harnessing genomics for identifying disease-resistant eels: Advances, applications, and sustainable aquaculture.	Liu M et al.	—	2026	→
Integrative Omics Defines Metabolic Biomarkers and Genetic Regulatory Mechanisms of Mortality Risk.	Liu P et al.	—	2026	→
Intracellular protein GBF1 displays significant associations with amyloid pathology in Alzheimer's disease.	Miller SJ et al.	—	2026	→
Loss-of-function allele of the soybean flowering/maturation gene TOF11 increases free amino acid content at the edamame stage and improves eating quality.	Shioya N et al.	—	2026	→
Mapping the heritability of disease: a nationwide study.	Auning J et al.	—	2026	→
MOKA: a pipeline for multiomics bridged SNP-set kernel association test.	Enoma D et al.	—	2026	→
Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.	Leban T et al.	—	2026	→
Natural variation suggests candidate genes underlying Caenorhabditis elegans susceptibility to diverse toxicants.	Crombie TA et al.	—	2026	→
On modeling the shared environment.	Asefa H et al.	—	2026	→
On the modelling of variance components in classical twin studies.	Hussain S	—	2026	→
Phantom epistasis through the lens of genealogies.	Ignatieva A et al.	—	2026	→
Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle.	Yang L et al.	—	2026	→
Prediction of Episodic Memory With Multiomics Scores.	Malmberg ALK et al.	—	2026	→
Predictive health index: integrating body composition and heart rate variability metrics with artificial intelligence to predict chronic disease risk and specific chronic non-communicable diseases.	Boschiero D et al.	—	2026	→
Prostate cancer germline variants with therapeutic implications.	Bitaraf M et al.	—	2026	→
Protein-protein interactions are a major source of epistasis in genetic interaction networks.	Castellanos-Girouard X et al.	—	2026	→
Sex-Specific Factors Influencing GrimAge Acceleration in Middle-Aged Korean Adults.	Kim S et al.	—	2026	→
Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases.	Zhang S et al.	—	2026	→
Structural Variation and 3D Genome-Driven DNA/RNA Methylation Divergence Contributing to Cotton Fiber Domestication.	Shao L et al.	—	2026	→
The Contribution of Genetic Modifiers to Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant Carriers.	Cylwik D et al.	—	2026	→
The genetics of hypertension.	Stölting G et al.	—	2026	→
The transformative role of single-cell analysis in multifactorial disorders research.	Wang CY et al.	—	2026	→
Unravelling Twin Births in German Holstein Cows: Phenotypic Associations, Genetic Analysis and Potential Underlying Genes and Hormones.	Hüneke L et al.	—	2026	→
Unveiling the Genomic Architecture of Phenotypic Plasticity Using Multiple GWAS Approaches Under Contrasting Conditions of Water Availability: A Model for Barley.	Arenas S et al.	—	2026	→
Using the linear references from the pangenome to discover missing autism variants.	Sui Y et al.	—	2026	→
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.	Lin JH et al.	—	2026	→
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations.	Hawkes G et al.	—	2026	→
A Bayesian Model for Paired Data in Genome-Wide Association Studies with Application to Breast Cancer.	Bu Y et al.	—	2025	→
A Brief Introduction to Genomics and Single-cell Analysis for Psychiatric Disorders.	Nishioka M	—	2025	→
Active learning framework leveraging transcriptomics identifies modulators of disease phenotypes.	DeMeo B et al.	—	2025	→
A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease.	Wang D et al.	—	2025	→
Advancements in genetic research and RNA therapy strategies for amyotrophic lateral sclerosis (ALS): current progress and future prospects.	Ruffo P et al.	—	2025	→
Advancements in toxicological risk assessment: integrating Ferguson's principle, computational models, and drug safety guidelines, a comprehensive framework for improving risk assessment and resource management in toxicology.	Bhandare SD	—	2025	→
Advancing the Indian cattle pangenome: characterizing non-reference sequences in Bos indicus.	Azam S et al.	—	2025	→
A genome-to-proteome map reveals how natural variants drive proteome diversity and shape fitness.	Jakobson CM et al.	—	2025	→
A genome-wide SNP-SNP interaction analysis exploring novel interacting loci associated with the risk of recurrence in colorectal cancer.	Curtis AA et al.	—	2025	→
Altered Body Composition in Dizziness and Vestibular Dysfunction: Insights From the Korean National Health and Nutrition Examination Survey.	Kim EJ et al.	—	2025	→
Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review.	Liu S et al.	—	2025	→
A mathematical framework for the quantitative analysis of genetic buffering.	Karagiannis J	—	2025	→
Analogies between the virial theorem and the Price equation.	Felce C et al.	—	2025	→
An Exploration of the Genetic Architecture of Pregnancy-Related Linea Nigra and Its Relationship With Pigmentation Phenotypes.	Bivol S et al.	—	2025	→
AnimalGWASAtlas: Annotation and prioritization of GWAS loci and quantitative trait loci for animal complex traits.	Gou Y et al.	—	2025	→
A novel genome-wide association study method for detecting quantitative trait loci interacting with complex population structures in plant genetics.	Hamazaki K et al.	—	2025	→
A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis.	Li R et al.	—	2025	→
A Recursive Model Approach to Include Epigenetic Effects in Genetic Evaluations Using Simulated DNA Methylation Effects.	López-Catalina A et al.	—	2025	→
Association of air pollution exposure and genetic susceptibility with increased risk of thoracic aortic aneurysm and dissection.	Ma Y et al.	—	2025	→
Association of <i>NOS</i> Gene Polymorphisms with Sepsis-Related Complications in Secondary Peritonitis.	Rasic M et al.	—	2025	→
A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration.	Li D et al.	—	2025	→
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.	Yan L et al.	—	2025	→
Brain asymmetry and its association with inattention and heritability during neurodevelopment.	Tomasi D et al.	—	2025	→
Can classical statistics and deep learning converge on explainable, causally driven target discovery?	Chen L	—	2025	→
Cataloging copy number variation regions and allied diversity in goat breeds spanning pan India.	Sukhija N et al.	—	2025	→
Causal association between serum 25-hydroxyvitamin D levels and epilepsy: A two-sample bidirectional mendelian randomization study.	Wu Z et al.	—	2025	→
Causal effect of body mass index on herpes zoster and postherpetic neuralgia: A Mendelian randomization study.	Wang W et al.	—	2025	→
Causal relationship between osteoporosis, bone mineral density, and osteonecrosis: a bidirectional two-sample Mendelian randomization study.	Zhang C et al.	—	2025	→
Characterizing selection on complex traits through conditional frequency spectra.	Patel RA et al.	—	2025	→
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.	Koyanagi Y et al.	—	2025	→
Clinical use of polygenic scores in type 2 diabetes: challenges and possibilities.	Prasad RB et al.	—	2025	→
Cohort Profile Update: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study) 2023 update.	Obara T et al.	—	2025	→
ComplexDnet: A Network-Based Strategy to Discover Critical Targets and Screen Active Compounds for Complex Diseases.	Pan F et al.	—	2025	→
Contribution of Genetics to Parkinson's Disease and Future Prospects.	Funayama M	—	2025	→
Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study.	Sha Z et al.	—	2025	→
Cross-sectional and Longitudinal Associations Between Family History of Type 2 Diabetes Mellitus, Hypertension, and Dyslipidemia and Their Prevalence and Incidence: Toranomon Hospital Health Management Center Study (TOPICS24).	Ikeda I et al.	—	2025	→
cuteFC: regenotyping structural variants through an accurate and efficient force-calling method.	Jiang T et al.	—	2025	→
Deciphering glioma susceptibility.	Fratton A et al.	—	2025	→
Detecting Gene-Gene Interaction among DNA Repair Genes in Chinese non-Syndromic Cleft lip with or Without Palate Trios.	Chen X et al.	—	2025	→
Detecting latent interaction effects when analyzing binary traits.	Zhang Z et al.	—	2025	→
Detection of Copy Number Variations in Woori-Heukdon Populations with the Illumina PorcineSNP60 Bead-Chip Array.	Kim YM et al.	—	2025	→
Development and Validation of Polygenic Scores for Retinal Vessel Calibers.	Yu C et al.	—	2025	→
Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.	Ortega HI et al.	—	2025	→
Differential methylation in blood pressure control genes is associated to essential hypertension in African Brazilian populations.	Avila Martins CC et al.	—	2025	→
Discovering Novel Loci of Chronic Kidney Disease via Principal Component Analysis-Based Multiple-Trait Genome-Wide Association Study.	Chuang GT et al.	—	2025	→
Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.	Cinque F et al.	—	2025	→
Dissect Gender-Dependent Susceptibility SNPs in Progressive Osteoarthritis Using Regulator Motif Candidate of Genetic Association Strategy (RMCGA).	Bai YS et al.	—	2025	→
DrFARM: identification of pleiotropic genetic variants in genome-wide association studies.	Chan LS et al.	—	2025	→
Dysregulated Gene Expression: A Candidate Mechanism for Anxiety Disorders.	Traenkner D et al.	—	2025	→
Early-Life Exposure to Organic Chemical Pollutants as Assessed in Primary Teeth and Cardiometabolic Risk in Mexican American Children: A Pilot Study.	Farook VS et al.	—	2025	→
Emerging multifaceted roles of the microbiome in cancer susceptibility.	Chang H et al.	—	2025	→
Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures.	Shrestha M et al.	—	2025	→
Epigenetic Mechanisms in Heart Diseases.	Yildiz M	—	2025	→
Evaluation of Low-Coverage Sequencing Strategies for Whole-Genome Imputation in Pacific Abalone <i>Haliotis discus hannai</i>.	Fei C et al.	—	2025	→
Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.	Rout M et al.	—	2025	→
Exome sequencing identifies genes for socioeconomic status in 350,770 individuals.	Wu XR et al.	—	2025	→
Exome sequencing identifies protein-coding variants associated with loneliness and social isolation.	Wang YX et al.	—	2025	→
Exploring cattle structural variation in the era of long reads, pangenome graphs, and near-complete assemblies.	Liu GE	—	2025	→
Fostering diversity in global genomics: a South Asian perspective.	Bhattacharyya C et al.	—	2025	→
From genotype to phenotype with 1,086 near telomere-to-telomere yeast genomes.	Loegler V et al.	—	2025	→
From geroscience to precision geromedicine: Understanding and managing aging.	Kroemer G et al.	—	2025	→
From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.	Garcia-Ruano AB et al.	—	2025	→
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.	Zhu S et al.	—	2025	→
Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases.	Panousis NI et al.	—	2025	→
Genetic and Environmental Contributions to Age-Related Hearing Loss: Results from a Longitudinal Twin Study.	O'Leary RM et al.	—	2025	→
Genetic and Functional Dissection of the NFKB2 Gene: Implications for Milk Fatty Acid Biosynthesis in Dairy Cattle.	Shi L et al.	—	2025	→
Genetic architecture and mechanisms of host-microbiome interactions from a multi-cohort analysis of outbred laboratory rats.	Tonnelé H et al.	—	2025	→
Genetic associations with educational fields.	Cheesman R et al.	—	2025	→
Genetic Biomarkers for Periodontal Diseases: A Systematic Review.	Dommisch H et al.	—	2025	→
Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.	Mathó C et al.	—	2025	→
Genetic correlations of alcohol consumption and alcohol use disorder with sex hormone levels in females and males.	Waller TC et al.	—	2025	→
[Genetic diagnostics of mental health disorders in adulthood].	Kilarski LL et al.	—	2025	→
Genetic dissection of the root system architecture QTLome and its relationship with early shoot development, breeding and adaptation in durum wheat.	Sciara G et al.	—	2025	→
Genetic parameters and single-step genome-wide association analysis for trematode (Fasciola hepatica and Calicophoron/Paramphistomum spp.) infections in German dairy cows.	May K et al.	—	2025	→
Genetic regulation of lncRNA expression in whole human brain and their contribution to CNS disorders.	He Y et al.	—	2025	→
Genetics of Tourette Syndrome.	Fernandez TV	—	2025	→
Genetic studies on metabolic disorder-associated kidney diseases.	Imamura M et al.	—	2025	→
Genetic Studies Through the Lens of Gene Networks.	Subirana-Granés M et al.	—	2025	→
Genetic susceptibility to lung squamous cell carcinoma: new insights on 9q33.2 variants and tobacco smoking.	Ma H et al.	—	2025	→
Genetic Susceptibility to Periodontitis.	Richter GM et al.	—	2025	→
Genome-scale metabolic modelling in antimicrobial pharmacology: Present and future.	Tao J et al.	—	2025	→
Genome-wide association study and polygenic risk scores of eosinophilia in Taiwan.	Lu HF et al.	—	2025	→
Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.	Takei R et al.	—	2025	→
Genome-wide association study of copy number variation and early growth traits in inner Mongolian cashmere goats.	Liu Y et al.	—	2025	→
Genome-wide association testing beyond SNPs.	Harris L et al.	—	2025	→
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.	Cisterna-Garcia A et al.	—	2025	→
Genome-Wide Study of the UK Biobank Highlights the Importance of the Homeobox-C Gene Cluster in Hip Fracture Risk.	Koizia LJ et al.	—	2025	→
Genomic approaches to explore susceptibility and pathogenesis of alcohol use disorder and alcohol-associated liver disease.	Norden-Krichmar TM et al.	—	2025	→
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.	Kim AY et al.	—	2025	→
Genomics of schizophrenia, bipolar disorder and major depressive disorder.	Owen MJ et al.	—	2025	→
Genomic variance partitioning of carcass and meat quality traits in Angus beef cattle.	Baneh H et al.	—	2025	→
Germline predisposition in multiple myeloma.	Martins Rodrigues F et al.	—	2025	→
Global Epidemiological Impact of PNPLA3 I148M on Liver Disease.	Kozlitina J et al.	—	2025	→
GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.	Sun Y et al.	—	2025	→
GWAS for behavioral traits in golden retrievers identifies genes implicated in human temperament, mental health, and cognition.	Alex E et al.	—	2025	→
Harnessing big data for enhanced genome-wide prediction in winter wheat breeding.	Gundala RR et al.	—	2025	→
Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives.	Dhiman A et al.	—	2025	→
Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families.	Lin B et al.	—	2025	→
Hierarchical selection of genetic and gene by environment interaction effects in high-dimensional mixed models.	St-Pierre J et al.	—	2025	→
HighDimMixedModels.jl: Robust high-dimensional mixed-effects models across omics data.	Gorstein E et al.	—	2025	→
High-precision machine learning identifies a reproducible functional connectivity signature of autism spectrum diagnosis in a subset of individuals.	Clarke N et al.	—	2025	→
How to Suspect and Approach Patients With Genetic Glomerular Disease.	Wongboonsin J et al.	—	2025	→
How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.	Belot A et al.	—	2025	→
Impact of Selection Signature on Genomic Prediction and Heritability Estimation in Livestock.	Zhang H et al.	—	2025	→
Improving imputation accuracy across tropically adapted beef cattle: an application for Brahman and Nellore using whole-genome sequencing data.	Fernandes Júnior GA et al.	—	2025	→
Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities.	Dukda S et al.	—	2025	→
Inheritance patterns of lower urinary tract symptoms in adults: a systematic review.	Moore L et al.	—	2025	→
Integrated Genomic-Metabolomic Analysis for Tri-Categorical Classification of Type 2 Diabetes Status in the Korean Ansan-Ansung Cohort.	Cha J et al.	—	2025	→
Integrating natural products with modern medicine in the treatment of gouty arthritis: a review.	Mageed SSA et al.	—	2025	→
Intersection Between Eco-Anxiety and Lexical Labels: A Study on Mental Health in Spanish-Language Digital Media.	Figueroa-Barra A et al.	—	2025	→
Investigating Gene-Environment Interplay Between Bereavement and Polygenic Risk for Attention-Deficit/Hyperactivity Disorder on Externalizing Behaviors During Adolescence.	Espinosa Dice AL et al.	—	2025	→
Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.	Natoli V et al.	—	2025	→
Long-read RNA sequencing: A transformative technology for exploring transcriptome complexity in human diseases.	Ament IH et al.	—	2025	→
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.	Thakur R et al.	—	2025	→
Metabolomics: a new frontier in neurodegenerative disease biomarker discovery.	Verma KK et al.	—	2025	→
Modeling ALS with Patient-Derived iPSCs: Recent Advances and Future Potentials.	Dawoody Nejad L et al.	—	2025	→
Moderation of treatment outcomes by polygenic risk for alcohol-related traits in placebo-controlled trials of topiramate.	Kranzler HR et al.	—	2025	→
Multi-ancestry genome-wide association study of topiramate's effects on heavy alcohol use.	Davis CN et al.	—	2025	→
Multi-Genome-Wide association studies provide new insights into the genetic architecture of Varroa resistance in honeybees.	Davoodi P et al.	—	2025	→
Multi-omics analysis indicates an association between TAPBP and prostate cancer.	Wang X et al.	—	2025	→
Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues.	Alemu R et al.	—	2025	→
Multi-omics evidence supports PROC as a potential predictor of VTE risk: A Mendelian randomization study.	Wan B et al.	—	2025	→
Multi-omics integration analysis reveals the regulatory impact of CNVs for slaughter traits in cattle.	Wu J et al.	—	2025	→
Multi-step gene set analysis identified HTR3 family genes involving childhood acute lymphoblastic leukemia susceptibility.	Liu X et al.	—	2025	→
Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis.	Zhang ZQ et al.	—	2025	→
Mutual-assistance learning for trustworthy biomarker discovery and disease prediction.	Zhang J et al.	—	2025	→
Myopia is predominantly genetic or predominantly environmental?	Verhoeven VJM et al.	—	2025	→
Natural variation of the holobiont for sustainable agroecosystems.	Weckwerth W et al.	—	2025	→
Novel Multimodal Precision Medicine Approaches and the Relevance of Developmental Trajectories in Bipolar Disorder.	Smeland OB et al.	—	2025	→
Novel rare variation of CCDC40 plays a role in the development of idiopathic scoliosis possibly via dysfunction of cilia motility.	Xu L et al.	—	2025	→
Oculomics meets exposomics: a roadmap for applying multi-modal ocular biomarkers in precision environmental health research.	Cheng H et al.	—	2025	→
Omics Studies in CKD: Diagnostic Opportunities and Therapeutic Potential.	Rroji M et al.	—	2025	→
Parental Transmission of Type 2 Diabetes Risk in Offspring: A Prospective Family-Based Cohort Study in Northern China.	Peng H et al.	—	2025	→
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.	Hashiba T et al.	—	2025	→
PCOS - the many faces of a disorder in women and men.	Lafci NG et al.	—	2025	→
Perspective on recent developments and challenges in regulatory and systems genomics.	Zeitlinger J et al.	—	2025	→
Pharmacogenetics and the Response to Antidepressants in Major Depressive Disorder.	Bertollo AG et al.	—	2025	→
Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer.	Rosenthal EA et al.	—	2025	→
Polygenic modelling and machine learning approaches in pharmacogenomics: Importance in downstream analysis of genome-wide association study data.	Koido M	—	2025	→
Polygenic risk score prediction accuracy convergence.	Henches L et al.	—	2025	→
Powerful Rare-Variant Association Analysis of Secondary Phenotypes.	Liu H et al.	—	2025	→
PP-GWAS: Privacy Preserving Multi-Site Genome-wide Association Studies.	Swaminathan A et al.	—	2025	→
Prediction of new-onset migraine using clinical-genotypic data from the HUNT Study: a machine learning analysis.	Faisal F et al.	—	2025	→
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.	Dzhumaniiazova I et al.	—	2025	→
Proteome-wide association studies for blood lipids and comparison with transcriptome-wide association studies.	Zhang D et al.	—	2025	→
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features.	Rayner G et al.	—	2025	→
Rare germline structural variants increase risk for pediatric solid tumors.	Gillani R et al.	—	2025	→
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.	Bauer R et al.	—	2025	→
Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis.	Malavašič P et al.	—	2025	→
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.	García Hernandez S et al.	—	2025	→
Refining fine-mapping: Effect sizes and regional heritability.	Benner C et al.	—	2025	→
Research Review: A review of the past decade of family and genomic studies on adolescent mental health.	Morneau-Vaillancourt G et al.	—	2025	→
RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.	Mangnier L et al.	—	2025	→
Role of multi-omics in aquaculture genetics and breeding: current status and future perspective.	Yu X et al.	—	2025	→
Runs of homozygosity assessment using reduced representation sequencing highlight the evidence of random mating in emu (<i>Dromaius novaehollandiae</i>).	Goli RC et al.	—	2025	→
sc2GWAS: a comprehensive platform linking single cell and GWAS traits of human.	Yin M et al.	—	2025	→
Secondary findings in pediatric genomic testing: clinical insights from Turkey.	Kendir-Demirkol Y et al.	—	2025	→
Shedding Light on Antisocial Behavior Through Genetically Informed Research.	Pezzoli P et al.	—	2025	→
SoMaCX: a complex generative genome modeling framework.	Becker TJ	—	2025	→
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.	Wang YC et al.	—	2025	→
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.	Hoffmann M et al.	—	2025	→
The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study.	Kogelman LJA et al.	—	2025	→
The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism.	Hunt AD et al.	—	2025	→
The rare-to-common disease journey: a winding road to new therapies.	Reinholdt L et al.	—	2025	→
Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach.	Zhang J et al.	—	2025	→
TTN and BAG3 in Cancer Therapy-Related Cardiomyopathy Among Long-Term Survivors of Childhood Cancer.	Neupane A et al.	—	2025	→
Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.	Lee CL et al.	—	2025	→
Unraveling the genetic susceptibility of irritable bowel syndrome: integrative genome-wide analyses in 845 492 individuals: a diagnostic study.	Huang W et al.	—	2025	→
Unravelling the genetic complexity of drug-resistant epilepsy: a critical narrative review.	Giacon M et al.	—	2025	→
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants.	Iyer KR et al.	—	2025	→
Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI.	Modenini G et al.	—	2025	→
Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.	Wiley MM et al.	—	2025	→
Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma.	Zeng Y et al.	—	2025	→
Whole-Exome Sequencing-Based Linkage Analysis of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS) Pedigrees.	Clay-Gilmour AI et al.	—	2025	→
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.	Chaar DL et al.	—	2025	→
Whole-genome variants resource of 298 Saanen dairy goats.	Zhang K 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	→
17 variants interaction of Wnt/β-catenin pathway associated with development of osteonecrosis of femoral head in Chinese Han population.	Shi C et al.	—	2024	→
A broken network of susceptibility genes in the monocytes of Crohn's disease patients.	Liu H et al.	—	2024	→
Accounting for heterogeneity due to environmental sources in meta-analysis of genome-wide association studies.	Wang S et al.	—	2024	→
Adaptive evolution and functional significance of the <i>PPARGC1A</i> gene across diverse animal species.	Hosseini SM et al.	—	2024	→
Advancements and Prospects of Genome-Wide Association Studies (GWAS) in Maize.	Sahito JH et al.	—	2024	→
Advances in computational and experimental approaches for deciphering transcriptional regulatory networks: Understanding the roles of cis-regulatory elements is essential, and recent research utilizing MPRAs, STARR-seq, CRISPR-Cas9, and machine learning has yielded valuable insights.	Moeckel C et al.	—	2024	→
Advancing Organoid Engineering for Tissue Regeneration and Biofunctional Reconstruction.	Jin H et al.	—	2024	→
A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes.	Wahbeh MH et al.	—	2024	→
A high-dimensional omnibus test for set-based association analysis.	Yang H et al.	—	2024	→
An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics.	Deng Q et al.	—	2024	→
An evolutionary perspective on complex neuropsychiatric disease.	McClellan JM et al.	—	2024	→
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.	Jadhav B et al.	—	2024	→
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.	Manigbas CA et al.	—	2024	→
A Pilot Detection and Associate Study of Gene Presence-Absence Variation in Holstein Cattle.	Boschiero C et al.	—	2024	→
Application of Genomic Data in Translational Medicine During the Big Data Era.	Zhang Y et al.	—	2024	→
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.	Wang Y et al.	—	2024	→
Assessing the lack of diversity in genetics research across neurodegenerative diseases: A systematic review of the GWAS Catalog and literature.	Jonson C et al.	—	2024	→
Association Analysis Provides Insights into Plant Mitonuclear Interactions.	Lian Q et al.	—	2024	→
Association between single nucleotide polymorphisms, TGF-β1 promoter methylation, and polycystic ovary syndrome.	Gao M et al.	—	2024	→
Association between waist circumference and chronic pain: insights from observational study and two-sample Mendelian randomization.	Xu T et al.	—	2024	→
Association of mitochondrial haplogroup H with reduced risk of type 2 Diabetes among Gulf Region Arabs.	Dashti M et al.	—	2024	→
Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.	Łukasiewicz-Śmietańska D et al.	—	2024	→
Atopic dermatitis-associated genetic variants regulate LOC100294145 expression implicating interleukin-27 production and type 1 interferon signaling.	Teo WY et al.	—	2024	→
Bayesian LASSO for population stratification correction in rare haplotype association studies.	Liu Z et al.	—	2024	→
Biobank-wide association scan identifies risk factors for late-onset Alzheimer's disease and endophenotypes.	Yan D et al.	—	2024	→
Biochemistry and genetics are coming together to improve our understanding of genotype to phenotype relationships.	Notbohm J et al.	—	2024	→
Biologically meaningful genome interpretation models to address data underdetermination for the leaf and seed ionome prediction in Arabidopsis thaliana.	Raimondi D et al.	—	2024	→
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples.	Holmgren A et al.	—	2024	→
BLUPmrMLM: A Fast mrMLM Algorithm in Genome-wide Association Studies.	Li HF et al.	—	2024	→
BridGE: a pathway-based analysis tool for detecting genetic interactions from GWAS.	Hajiaghabozorgi M et al.	—	2024	→
Case-control association study between polygenic risk score and COVID-19 severity in a Russian population using low-pass genome sequencing.	Nostaeva A et al.	—	2024	→
Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.	Sandran NG et al.	—	2024	→
Clinical Strategies in Gene Screening Counseling for the Healthy General Population.	Kang HY et al.	—	2024	→
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.	Bale G et al.	—	2024	→
Comprehensive Genetic Analysis of Associations between Obesity-Related Parameters and Physical Activity: A Scoping Review.	Leońska-Duniec A	—	2024	→
Comprehensive identification of genomic and environmental determinants of phenotypic plasticity in maize.	Tibbs-Cortes LE et al.	—	2024	→
Computational Identification of Milk Trait Regulation Through Transcription Factor Cooperation in Murciano-Granadina Goats.	Khan MI et al.	—	2024	→
Computing linkage disequilibrium aware genome embeddings using autoencoders.	Taş G et al.	—	2024	→
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model.	Nagao Y	—	2024	→
Correlations of the <i>CNR1</i> Gene with Personality Traits in Women with Alcohol Use Disorder.	Maciocha F et al.	—	2024	→
Crosstalk between epitranscriptomic and epigenomic modifications and its implication in human diseases.	Li C et al.	—	2024	→
Decoding polygenic diseases: advances in noncoding variant prioritization and validation.	Chin IM et al.	—	2024	→
Decoding the exposome: data science methodologies and implications in exposome-wide association studies (ExWASs).	Chung MK et al.	—	2024	→
Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast.	Tsouris A et al.	—	2024	→
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.	Neuhofer CM et al.	—	2024	→
DiseaseNet: a transfer learning approach to noncommunicable disease classification.	Gore S et al.	—	2024	→
Dissecting heritability, environmental risk, and air pollution causal effects using > 50 million individuals in MarketScan.	McGuire D et al.	—	2024	→
Dissecting the genetic architecture of quantitative traits using genome-wide identity-by-descent sharing.	Fraimout A et al.	—	2024	→
DNA modifications: Biomarkers for the exposome?	Möller C et al.	—	2024	→
El Hierro Genome Study: A Genomic and Health Study in an Isolated Canary Island Population.	Puga M et al.	—	2024	→
Elucidating the nexus between onco-immunology and kidney transplantation: An insight from precision medicine perspective.	Purnomo AF et al.	—	2024	→
Enhancing Equity in Genomics: Incorporating Measures of Structural Racism, Discrimination, and Social Determinants of Health.	Rajagopalan RM et al.	—	2024	→
Epigenetic Age Acceleration and Disparities in Posttraumatic Stress in Women in Southeast Louisiana: NIMHD Social Epigenomics Program.	Smith AK 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	→
Etiology of Borderline Intellectual Functioning.	Kim HW	—	2024	→
Evaluation of penalized and machine learning methods for asthma disease prediction in the Korean Genome and Epidemiology Study (KoGES).	Choi Y et al.	—	2024	→
Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer.	Bigge J et al.	—	2024	→
First insight of the genome-wide association study and genomic prediction into enteritis disease (<i>Vibrio harveyi</i>) resistance trait in the lined seahorse (<i>Hippocampus erectus</i>).	Li S et al.	—	2024	→
Fructose intake from sugar-sweetened beverages is associated with a greater risk of hyperandrogenism in women: UK Biobank cohort study.	Chen H et al.	—	2024	→
Functional Genomics in Psoriasis.	Rossi S et al.	—	2024	→
Functional Neural Networks for High-Dimensional Genetic Data Analysis.	Zhang S et al.	—	2024	→
Gene-based association tests in family samples using GWAS summary statistics.	Wang P et al.	—	2024	→
Gene‒Environment Interaction Between CAST Gene and Eye-Rubbing in the Chinese Keratoconus Cohort Study: A Case-Only Study.	Yin S et al.	—	2024	→
Gene-Environment Interactions and Gene-Gene Interactions on Two Biological Age Measures: Evidence from Taiwan Biobank Participants.	Lin WY	—	2024	→
Genetic and Environmental Influences on Sexual Orientation: Moderation by Childhood Gender Nonconformity and Early-Life Adversity.	Oginni OA et al.	—	2024	→
Genetic and Epigenetic Landscape for Drug Development in Polycystic Ovary Syndrome.	Chen Y et al.	—	2024	→
Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives.	Treccani M et al.	—	2024	→
Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis.	Caparali EB et al.	—	2024	→
Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance.	Bıçakçı B et al.	—	2024	→
Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress.	Jiang W et al.	—	2024	→
Genetic liability to higher frailty index may increase the risk of ophthalmic disease.	Lin J et al.	—	2024	→
Genetic predisposition to nephropathy and associated cardiovascular disease in people with type 1 diabetes: role of the angiotensinI-converting enzyme (ACE), and beyond; a narrative review.	Mohammedi K et al.	—	2024	→
Genetic similarity between relatives provides evidence on the presence and history of assortative mating.	Sunde HF et al.	—	2024	→
Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.	Sookoian S et al.	—	2024	→
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.	Manzoni C et al.	—	2024	→
Genome-Wide and Exome-Wide Association Study Identifies Genetic Underpinning of Comorbidity between Myocardial Infarction and Severe Mental Disorders.	Jiang B et al.	—	2024	→
Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.	Ghose U et al.	—	2024	→
Genome-Wide Association Study and Phenotype Prediction of Reproductive Traits in Large White Pigs.	Zhang H et al.	—	2024	→
Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever.	Kotliar D et al.	—	2024	→
Genome-wide association study reveals GmFulb as candidate gene for maturity time and reproductive length in soybeans (Glycine max).	Escamilla DM et al.	—	2024	→
Genome-wide detection of multiple variants associated with teat number in French Yorkshire pigs.	Lin D et al.	—	2024	→
Genome-wide epistasis analysis reveals gene-gene interaction network on an intermediate endophenotype P-tau/Aβ<sub>42</sub> ratio in ADNI cohort.	Zhang Q et al.	—	2024	→
Genome-wide exploration of genetic interactions for bladder cancer risk.	Yu EY et al.	—	2024	→
Genome-Wide Genetic Associations Prioritize Evaluation of Causal Mechanisms of Atherosclerotic Disease Risk.	Quertermous T et al.	—	2024	→
Genome-wide selection signatures address trait specific candidate genes in cattle indigenous to arid regions of India.	Sukhija N et al.	—	2024	→
Germline determinants of aberrant signaling pathways in cancer.	Dalfovo D et al.	—	2024	→
Germline <i>cis</i> variant determines epigenetic regulation of the anti-cancer drug metabolism gene dihydropyrimidine dehydrogenase (<i>DPYD</i>).	Zhang T et al.	—	2024	→
Gut microbial diversity moderates polygenic risk of schizophrenia.	Zhang L et al.	—	2024	→
Harnessing human genetics and stem cells for precision cardiovascular medicine.	Caudal A et al.	—	2024	→
Heritability of cerebellar subregion volumes in adolescent and young adult twins.	Strike LT et al.	—	2024	→
Heritability of white matter in twins: A diffusion neuroimaging review.	Videtta G et al.	—	2024	→
Identification of a strong genetic risk factor for major depressive disorder in the human virome.	Kobayashi N et al.	—	2024	→
Identifying latent genetic interactions in genome-wide association studies using multiple traits.	Bass AJ et al.	—	2024	→
Identifying Oncogenic Missense Single Nucleotide Polymorphisms in Human SAT1 Gene Using Computational Algorithms and Molecular Dynamics Tools.	Mozibullah M et al.	—	2024	→
<i>KCNQ1</i> rs2237895 gene polymorphism increases susceptibility to type 2 diabetes mellitus in Asian populations.	Li DX et al.	—	2024	→
IL-6-174 G/C transversion might decrease male infertility risk: A case-control study.	Zamani-Badi T et al.	—	2024	→
Increased CpG methylation at the CDH1 locus in inflamed ileal mucosa of patients with Crohn disease.	de Ponthaud C et al.	—	2024	→
Insights from homozygous signatures of cervus nippon revealed genetic architecture for components of fitness.	Goli RC et al.	—	2024	→
Integrated Pleiotropic Gene Set Unveils Comorbidity Insights across Digestive Cancers and Other Diseases.	Wu X et al.	—	2024	→
Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study.	Oh EY et al.	—	2024	→
Inter- and transgenerational heritability of preconception chronic stress or alcohol exposure: Translational outcomes in brain and behavior.	Rice RC et al.	—	2024	→
Is there an impending epidemic of myopia in Southeast Asia? An appraisal of the evidence.	Morgan IG	—	2024	→
Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.	Latini A et al.	—	2024	→
Low-frequency and rare genetic variants associated with rheumatoid arthritis risk.	Kronzer VL et al.	—	2024	→
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.	Lu J et al.	—	2024	→
Mapping phenotypic performance and novel SNPs for cold tolerance in tomato (Solanum lycopersicum) genotypes through GWAS and population genetics.	Shah LR et al.	—	2024	→
Massively parallel screen uncovers many rare 3' UTR variants regulating mRNA abundance of cancer driver genes.	Fu T et al.	—	2024	→
MGA loss-of-function variants cause premature ovarian insufficiency.	Tang S et al.	—	2024	→
Modeling genotype-protein interaction and correlation for Alzheimer's disease: a multi-omics imaging genetics study.	Zhang J et al.	—	2024	→
Monogenic and polygenic concepts in chronic kidney disease (CKD).	Jefferis J et al.	—	2024	→
Monogenic causes of cerebral small vessel disease and stroke.	Guey S et al.	—	2024	→
Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities.	Qin Y et al.	—	2024	→
MTHFR genetic testing: is there a clinical utility?	Planello AC et al.	—	2024	→
Network medicine-based epistasis detection in complex diseases: ready for quantum computing.	Hoffmann M et al.	—	2024	→
Next-Gen GWAS: full 2D epistatic interaction maps retrieve part of missing heritability and improve phenotypic prediction.	Carré C et al.	—	2024	→
Non-additive genetic components contribute significantly to population-wide gene expression variation.	Tsouris A et al.	—	2024	→
Obstructive sleep apnea and genotype rs6843082 as a risk factor for cerebrovascular accident.	Yang TC et al.	—	2024	→
Overview of role of survivin in cancer: expression, regulation, functions, and its potential as a therapeutic target.	Fang XL et al.	—	2024	→
PathGPS: discover shared genetic architecture using GWAS summary data.	Gao Z et al.	—	2024	→
Pathogenicity of de novo CACNA1D Ca<sup>2+</sup> channel variants predicted from sequence co-variation.	Tang X et al.	—	2024	→
Pharmacogenomics in Sri Lanka: a comprehensive systematic review of the research landscape and clinical implications.	Ranasinghe P et al.	—	2024	→
Polygenic Risk Scores and Genetically Complex Eye Disease.	Le NQ et al.	—	2024	→
Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study.	Singh RK et al.	—	2024	→
Power of testing for exposure effects under incomplete mediation.	Zhou RR et al.	—	2024	→
Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets.	Rönn T et al.	—	2024	→
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.	Advani J et al.	—	2024	→
Quantitative omnigenic model discovers interpretable genome-wide associations.	Ružičková N et al.	—	2024	→
Rare and common variants associated with alcohol consumption identify a conserved molecular network.	Leger BS et al.	—	2024	→
Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.	Breitwieser GE et al.	—	2024	→
Rare <i>CRHR2</i> and <i>GRM8</i> variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing.	Oka A et al.	—	2024	→
Rare-variant association study unveils the Achilles' heel for HCC.	Wang Y et al.	—	2024	→
RAVAR: a curated repository for rare variant-trait associations.	Cao C et al.	—	2024	→
Recent Advances in Genomic Studies of Gestational Duration and Preterm Birth.	Srivastava AK et al.	—	2024	→
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.	Schmidt RJ et al.	—	2024	→
Regression convolutional neural network models implicate peripheral immune regulatory variants in the predisposition to Alzheimer's disease.	Ramamurthy E et al.	—	2024	→
Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.	Tkachenko AA et al.	—	2024	→
Responses to commentaries on "The gene: An appraisal".	Baverstock K	—	2024	→
Scalable summary-statistics-based heritability estimation method with individual genotype level accuracy.	Jeong M et al.	—	2024	→
Serpin Family B Member 2 Polymorphisms in Patients with Diabetic Kidney Disease: An Association Study.	Tziastoudi M et al.	—	2024	→
Serum concentration of polychlorinated biphenyls and the risk of type 2 diabetes: a 10-year follow-up historical cohort study.	Ravanipour M et al.	—	2024	→
Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.	Wang X et al.	—	2024	→
Sex and Gender in Population Neuroscience.	Vosberg DE	—	2024	→
SimHOEPI: A resampling simulator for generating single nucleotide polymorphism data with a high-order epistasis model.	Li Y et al.	—	2024	→
Single-cell RNA sequencing in exploring the pathogenesis of diabetic retinopathy.	Zhang X et al.	—	2024	→
SNP analysis of stress-related genes reveals significant correlations with drug addiction in Jordan.	Al-Eitan L et al.	—	2024	→
Socioeconomic position interacts with the genetic effect of a CRP gene common variant to influence C-reactive protein values.	Cheaib M et al.	—	2024	→
Somatic Variants Acquired Later in Life Associated with Thoracic Aortic Aneurysms: <i>JAK2</i> V617F.	Waldron C et al.	—	2024	→
Targeted Variant Assessments of Human Endogenous Retroviral Regions in Whole Genome Sequencing Data Reveal Retroviral Variants Associated with Papillary Thyroid Cancer.	Stricker E et al.	—	2024	→
The developmental origins of health and disease and intergenerational inheritance: a scoping review of multigenerational cohort studies.	Tan J et al.	—	2024	→
The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes.	Amiri Roudbar M et al.	—	2024	→
The Gene: An appraisal.	Baverstock K	—	2024	→
The relationship between loneliness and blood glucose: a cross-sectional survey among Japanese.	Tran QA et al.	—	2024	→
The schizophrenia syndrome, circa 2024: What we know and how that informs its nature.	Tandon R et al.	—	2024	→
The utility of obesity polygenic risk scores from research to clinical practice: A review.	Jansen PR et al.	—	2024	→
Topiramate Versus Naltrexone for Alcohol Use Disorder: A Genotype-Stratified Double-Blind Randomized Controlled Trial.	Morley KC et al.	—	2024	→
Transgenerational epigenetic self-memory of <i>Dio3</i> dosage is associated with <i>Meg3</i> methylation and altered growth trajectories and neonatal hormones.	Martinez ME et al.	—	2024	→
Translation of genome-wide association study: from genomic signals to biological insights.	Bruner WS et al.	—	2024	→
Trans-regulatory variant network contributes to missing heritability.	Pereira V et al.	—	2024	→
Understanding genetic variants in context.	Sinnott-Armstrong N et al.	—	2024	→
Unraveling schizophrenia's genetic complexity through advanced causal inference and chromatin 3D conformation.	Liu L et al.	—	2024	→
Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.	Firdaus Z et al.	—	2024	→
Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.	Alfayyadh MM et al.	—	2024	→
Update in genetic and epigenetic causes of hypertension.	Mani A	—	2024	→
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.	Andaluz S et al.	—	2024	→
Validation of cross-progeny variance genomic prediction using simulations and experimental data in winter elite bread wheat.	Oget-Ebrad C et al.	—	2024	→
White matter, and why twin resemblance can still matter.	Battaglia M	—	2024	→
Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.	Sestan M et al.	—	2024	→
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank.	Gaynor SM et al.	—	2024	→
5. Collaborative Study on the Genetics of Alcoholism: Functional genomics.	Gameiro-Ros I et al.	—	2023	→
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.	Mensah MA et al.	—	2023	→
Accelerating Food Allergy Research: Need for a Data Commons.	Gupta RS et al.	—	2023	→
Accurate prediction of quantitative traits with failed SNP calls in canola and maize.	Weber SE et al.	—	2023	→
A comprehensive analysis of copy number variations in diverse apple populations.	Xu J et al.	—	2023	→
A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes <i>IRF6</i>, <i>GRHL3</i>, and <i>TBX22</i>.	Slavec L et al.	—	2023	→
Advancements in the Genetics of Spontaneous Coronary Artery Dissection.	Katz AE et al.	—	2023	→
A founder <i>UMOD</i> variant is a common cause of hereditary nephropathy in the British population.	Valluru MK et al.	—	2023	→
A gene based combination test using GWAS summary data.	Zhang J et al.	—	2023	→
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.	Hori M et al.	—	2023	→
Alpha-1-antitrypsin antagonizes COVID-19: a review of the epidemiology, molecular mechanisms, and clinical evidence.	Bai X et al.	—	2023	→
A multidimensional social risk atlas of depression and anxiety: An observational and genome-wide environmental interaction study.	Pan C et al.	—	2023	→
An HBV susceptibility variant of KNG1 modulates the therapeutic effects of interferons α and λ1 in HBV infection by promoting MAVS lysosomal degradation.	Zhang B et al.	—	2023	→
A persistent major mutation in canonical jasmonate signaling is embedded in an herbivory-elicited gene network.	Ray R et al.	—	2023	→
A Polygenic Risk Score for Predicting Racial and Genetic Susceptibility to Prurigo Nodularis.	Vasavda C et al.	—	2023	→
Applications of advanced technologies for detecting genomic structural variation.	Laufer VA et al.	—	2023	→
Applying an evolutionary mismatch framework to understand disease susceptibility.	Lea AJ et al.	—	2023	→
APP/PS1 Gene-Environmental Cadmium Interaction Aggravates the Progression of Alzheimer's Disease in Mice via the Blood-Brain Barrier, Amyloid-β, and Inflammation.	Liu J et al.	—	2023	→
A Rare Variant in <i>MDH2</i> (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.	Cannon-Albright LA et al.	—	2023	→
A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders.	Detera-Wadleigh SD et al.	—	2023	→
Artificial selection reveals complex genetic architecture of shoot branching and its response to nitrate supply in Arabidopsis.	Tavares H et al.	—	2023	→
Assessing the Potential for Genome-Assisted Breeding in Red Perilla Using Quantitative Trait Locus Analysis and Genomic Prediction.	Kinoshita S et al.	—	2023	→
Association Between Interleukin-6 Gene Polymorphism and Severity of Coronary Artery Disease in Patients with Diabetes.	Yao H et al.	—	2023	→
[Association of gene polymorphisms of <i>MyD88</i> and <i>TICAM1</i> and their interactions with community-acquired pneumonia in children].	Yang Y et al.	—	2023	→
Association of the polymorphisms of the cholesteryl ester transfer protein gene with coronary artery disease: a meta-analysis.	Zhang R et al.	—	2023	→
Associations between epigenome-wide DNA methylation and height-related traits among Sub-Saharan Africans: the RODAM study.	Swart G et al.	—	2023	→
Associations between polygenic risk score and covid-19 susceptibility and severity across ethnic groups: UK Biobank analysis.	Farooqi R et al.	—	2023	→
Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity.	Hongyao HE et al.	—	2023	→
AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.	Guthrie J et al.	—	2023	→
Autoimmune pre-disease.	Bieber K 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	→
Ayurgenomics-based frameworks in precision and integrative medicine: Translational opportunities.	Mukerji M	—	2023	→
Bayesian multivariate genetic analysis improves translational insights.	Urbut SM et al.	—	2023	→
Behaviour genetics and sleep: A narrative review of the last decade of quantitative and molecular genetic research in humans.	Madrid-Valero JJ et al.	—	2023	→
Beyond personal space: Unveiling the transmission pattern of the human gut and oral microbiome.	Andreu-Sánchez S et al.	—	2023	→
Bidirectional genetic overlap between autism spectrum disorder and cognitive traits.	Hope S et al.	—	2023	→
Biological Pathways Associated with Vitamins in Autism Spectrum Disorder.	Gusso D et al.	—	2023	→
Chargaff's second parity rule lies at the origin of additive genetic interactions in quantitative traits to make omnigenic selection possible.	Matkarimov BT et al.	—	2023	→
Chemical Safety and the Exposome.	Karlsson O	—	2023	→
Clinical effects of novel susceptibility genes for beta-amyloid: a gene-based association study in the Korean population.	Kim BH et al.	—	2023	→
Cobalt induces neurodegenerative damages through impairing autophagic flux by activating hypoxia-inducible factor-1α triggered ROS overproduction.	Tang J et al.	—	2023	→
Combating hypertension beyond genome-wide association studies: Microbiome and artificial intelligence as opportunities for precision medicine.	Aryal S et al.	—	2023	→
Combining the targeted and untargeted screening of environmental contaminants reveals associations between PFAS exposure and vitamin D metabolism in human plasma.	Carlsson H et al.	—	2023	→
Complex effects of sequence variants on lipid levels and coronary artery disease.	Snaebjarnarson AS et al.	—	2023	→
Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous.	Wu CY et al.	—	2023	→
Copy Number Variations in Neuropsychiatric Disorders.	Büki G et al.	—	2023	→
Cytokine gene polymorphism and parasite susceptibility in free-living rodents: Importance of non-coding variants.	Kloch A et al.	—	2023	→
Data-driven approaches can harness crop diversity to address heterogeneous needs for breeding products.	van Etten J et al.	—	2023	→
DeepGAMI: deep biologically guided auxiliary learning for multimodal integration and imputation to improve genotype-phenotype prediction.	Chandrashekar PB et al.	—	2023	→
Deep integrative models for large-scale human genomics.	Sigurdsson AI et al.	—	2023	→
De novo mutations disturb early brain development more frequently than common variants in schizophrenia.	Itai T et al.	—	2023	→
Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability.	Gupta A et al.	—	2023	→
Dysuricemia.	Nakayama A et al.	—	2023	→
Effect of schizophrenia common variants on infant brain volumes: cross-sectional study in 207 term neonates in developing Human Connectome Project.	Le H et al.	—	2023	→
Efficient penalized generalized linear mixed models for variable selection and genetic risk prediction in high-dimensional data.	St-Pierre J et al.	—	2023	→
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.	Miga KH et al.	—	2023	→
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.	Bundalian L et al.	—	2023	→
Evaluation of low-density SNP panels and imputation for cost-effective genomic selection in four aquaculture species.	Kriaridou C et al.	—	2023	→
Evaluation of noninvasive biospecimens for transcriptome studies.	Martorella M et al.	—	2023	→
Evidence for Epistatic Interaction between <i>HLA-G</i> and <i>LILRB1</i> in the Pathogenesis of Nonsegmental Vitiligo.	Oliveira-Caramez ML et al.	—	2023	→
Examining the shared etiology of psychopathology with genome-wide association studies.	Mallard TT et al.	—	2023	→
Exosomes as biomarkers and therapy in type 2 diabetes mellitus and associated complications.	Satyadev N et al.	—	2023	→
Explaining the influence of non-shared environment (NSE) on symptoms of behaviour problems from preschool to adulthood: mind the missing NSE gap.	Gidziela A et al.	—	2023	→
Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits.	Tang D et al.	—	2023	→
[From genotype to phenotype: amylase gene in childhood obesity].	Vázquez-Moreno MA et al.	—	2023	→
GCPBayes pipeline: a tool for exploring pleiotropy at the gene level.	Asgari Y et al.	—	2023	→
Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes.	Ralli S et al.	—	2023	→
Gene-environment interaction explains a part of missing heritability in human body mass index.	Jung HU et al.	—	2023	→
Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors.	Cha J et al.	—	2023	→
Genetic Association Analysis of Copy Number Variations for Meat Quality in Beef Cattle.	Wu J et al.	—	2023	→
Genetic confounding in bullying research: Causal claims revisited.	Vrijen C et al.	—	2023	→
Genetic differences according to onset age and lung function in asthma: A cluster analysis.	Kim HK et al.	—	2023	→
Genetic Influences on Cognitive Dysfunction in Schizophrenia.	Greenwood TA	—	2023	→
Genetic risk assessment based on association and prediction studies.	Astrologo NCN et al.	—	2023	→
Genetic Risk Scores and Missing Heritability in Ovarian Cancer.	Fatapour Y et al.	—	2023	→
Genetics and epigenetics in the obesity phenotyping scenario.	Trang K et al.	—	2023	→
Genetic testing for Parkinson's disease in clinical practice.	Gasser T	—	2023	→
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.	Kirkham JK et al.	—	2023	→
Genetic variation in chromatin state across multiple tissues in Drosophila melanogaster.	Huynh K et al.	—	2023	→
Genetic variations underlying Gilbert syndrome and HBV infection outcomes: a cross-sectional study.	Yao B et al.	—	2023	→
Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.	Zhang Z et al.	—	2023	→
Genome-Wide Association Analysis Identified Variants Associated with Body Measurement and Reproduction Traits in Shaziling Pigs.	Lan Q et al.	—	2023	→
Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women.	Chung J et al.	—	2023	→
Genome-wide association studies of cardiovascular disease.	Walsh R et al.	—	2023	→
Genome-Wide Association Studies of Live Weight at First Breeding at Eight Months of Age and Pregnancy Status of Ewe Lambs.	Haslin E et al.	—	2023	→
Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study.	Singh S et al.	—	2023	→
Genome-Wide Association Study on Reproductive Traits Using Imputation-Based Whole-Genome Sequence Data in Yorkshire Pigs.	Sun J et al.	—	2023	→
Genome-Wide Association Study Reveals the Genetic Basis of Duck Plumage Colors.	Zhang X et al.	—	2023	→
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.	Aleknonytė-Resch M et al.	—	2023	→
Genome-Wide Detection and Analysis of Copy Number Variation in Anhui Indigenous and Western Commercial Pig Breeds Using Porcine 80K SNP BeadChip.	Xu C et al.	—	2023	→
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.	Martin-Trujillo A et al.	—	2023	→
Genome-wide polygenic risk score for major osteoporotic fractures in postmenopausal women using associated single nucleotide polymorphisms.	Wu Q et al.	—	2023	→
Genome-wide single nucleotide polymorphism (SNP) data reveal potential candidate genes for litter traits in a Yorkshire pig population.	Zhang Y et al.	—	2023	→
Genotype and phenotype data standardization, utilization and integration in the big data era for agricultural sciences.	Deng CH et al.	—	2023	→
Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.	Zecca C et al.	—	2023	→
Heritability Estimation Approaches Utilizing Genome-Wide Data.	Srivastava AK et al.	—	2023	→
High-dimensional supervised classification in a context of non-independence of observations to identify the determining SNPs in a phenotype.	Gaye A et al.	—	2023	→
High-Risk Pedigree Study Identifies <i>LRBA</i> (rs62346982) as a Likely Predisposition Variant for Prostate Cancer.	Cannon-Albright LA et al.	—	2023	→
Host Susceptibility to Nontuberculous Mycobacterial Pulmonary Disease.	Namkoong H et al.	—	2023	→
Human height: a model common complex trait.	Conery M et al.	—	2023	→
Hypothesis-free phenotype prediction within a genetics-first framework.	Lu C et al.	—	2023	→
Identification of actionable targets for breast cancer intervention using a diversity outbred mouse model.	Jacob JB et al.	—	2023	→
Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation.	He X et al.	—	2023	→
Identification of Candidate QTLs and Genes for Ear Diameter by Multi-Parent Population in Maize.	Jiang F et al.	—	2023	→
Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer.	Rocha J et al.	—	2023	→
Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios.	Díez-Villanueva A et al.	—	2023	→
Identification of Novel Quantitative Trait Loci for Culm Thickness of Rice Derived from Strong-Culm Landrace in Japan, Omachi.	Chigira K et al.	—	2023	→
Identification of rare missense mutations in the glutamate ionotropic receptor AMPA type subunit genes in schizophrenia.	Lin KH et al.	—	2023	→
Identifying Genes Associated with Alzheimer's Disease Using Gene-Based Polygenic Risk Score.	Lai D et al.	—	2023	→
Immunogenetics and pharmacogenetics of allergic asthma in Africa.	Mabelane T et al.	—	2023	→
Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics.	Rancelis T et al.	—	2023	→
Improving the accuracy of genomic prediction for meat quality traits using whole genome sequence data in pigs.	Zhuang Z et al.	—	2023	→
Integration of eQTL and machine learning to dissect causal genes with pleiotropic effects in genetic regulation networks of seed cotton yield.	Zhao T et al.	—	2023	→
Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk.	Gómez-Vecino A et al.	—	2023	→
Interplay between acute coronary syndromes and cancer: insights into pathophysiology, diagnostic challenges, and treatment options.	Ciołek A et al.	—	2023	→
Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.	Chan AP et al.	—	2023	→
Jaw size variation is associated with a novel craniofacial function for galanin receptor 2 in an adaptive radiation of pupfishes.	Palominos MF et al.	—	2023	→
kGWASflow: a modular, flexible, and reproducible Snakemake workflow for k-mers-based GWAS.	Corut AK et al.	—	2023	→
Kidney impairment in a child with acute-subacute paracoccidioidomycosis: Answers.	das Neves Romaneli MT et al.	—	2023	→
Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer.	Xu J et al.	—	2023	→
Learning high-order interactions for polygenic risk prediction.	Massi MC et al.	—	2023	→
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective.	Zhu Z et al.	—	2023	→
Leveraging Single-Cell Populations to Uncover the Genetic Basis of Complex Traits.	Minow MAA et al.	—	2023	→
Long-term effect of styrene and ethylbenzene exposure on fasting plasma glucose: A gene-environment interaction study.	Yu L et al.	—	2023	→
Low copy numbers of complement <i>C4</i> and <i>C4A</i> deficiency are risk factors for myositis, its subgroups and autoantibodies.	Zhou D et al.	—	2023	→
Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood.	Benaglio P et al.	—	2023	→
Mapping Genetic Variation in Arabidopsis in Response to Plant Growth-Promoting Bacterium <i>Azoarcus olearius</i> DQS-4T.	Plucani do Amaral F et al.	—	2023	→
Mass spectrometry-based targeted proteomics for analysis of protein mutations.	Lin TT et al.	—	2023	→
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data.	Li A et al.	—	2023	→
Medications for treating alcohol use disorder: A narrative review.	Kranzler HR et al.	—	2023	→
Missing Causality and Heritability of Autoimmune Hepatitis.	Czaja AJ	—	2023	→
multi-GPA-Tree: Statistical approach for pleiotropy informed and functional annotation tree guided prioritization of GWAS results.	Khatiwada A et al.	—	2023	→
Multi-Tiered Assessment of Gene Expression Provides Evidence for Mechanisms That Underlie Risk for Type 2 Diabetes.	Asam K et al.	—	2023	→
Natural variation of respiration-related traits in plants.	Bulut M et al.	—	2023	→
Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction.	Alvizi L et al.	—	2023	→
New historical and philosophical perspectives on quantitative genetics.	Serpico D et al.	—	2023	→
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.	Andreassen OA et al.	—	2023	→
New Research Perspectives on the Interplay Between Genes and Environment on Executive Function Development.	Miguel PM et al.	—	2023	→
Nutrigenomics and redox regulation: Concepts relating to the Special Issue on nutrigenomics.	Klotz LO et al.	—	2023	→
Nutrigenomics in the context of evolution.	Carlberg C	—	2023	→
On evolutionary medicine and health disparities.	Brandon Ogbunugafor C et al.	—	2023	→
Ontologizing health systems data at scale: making translational discovery a reality.	Callahan TJ et al.	—	2023	→
ParseCNV2: a versatile and integrated tool for copy number variation association studies.	Lim TY et al.	—	2023	→
Paternal developmental thyrotoxicosis disrupts neonatal leptin leading to increased adiposity and altered physiology of the melanocortin system.	Martinez ME et al.	—	2023	→
Paternal Western diet causes transgenerational increase in food consumption in Drosophila with parallel alterations in the offspring brain proteome and microRNAs.	Murashov AK et al.	—	2023	→
Personalized medicine with germline pathogenic variants: Importance of population- and region-wide evidence.	Usui Y et al.	—	2023	→
Perspective on the Effect of Membrane Mimetics on Dynamic Properties of Integral Membrane Proteins.	Sahu ID et al.	—	2023	→
Pharmacogenomics in the Management of Pulmonary Arterial Hypertension: Current Perspectives.	Coons JC et al.	—	2023	→
PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.	Xu Z et al.	—	2023	→
Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for anthropometric traits using GTEx data.	Jullian Fabres P et al.	—	2023	→
Polygenic risk of type 2 diabetes is associated with incident vascular dementia: a prospective cohort study.	Dybjer E et al.	—	2023	→
Polygenic risk scores and breast cancer risk prediction.	Roberts E et al.	—	2023	→
Polygenic scoring accuracy varies across the genetic ancestry continuum.	Ding Y et al.	—	2023	→
Population diversity and equity in the genomic era: going global to return to the local.	Ruderman A	—	2023	→
Preadapted to adapt: underpinnings of adaptive plasticity revealed by the downy brome genome.	Revolinski SR et al.	—	2023	→
Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach.	Guan Z et al.	—	2023	→
Programmed versus non-programmed evolution of aging. What is the evidence?	Pamplona R et al.	—	2023	→
Rare penetrant mutations confer severe risk of common diseases	Fiziev P et al.	—	2023	—
Rare penetrant mutations confer severe risk of common diseases.	Fiziev PP et al.	—	2023	→
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.	Musolf AM et al.	—	2023	→
Redox stress shortens lifespan through suppression of respiratory complex I in flies with mitonuclear incompatibilities.	Camus MF et al.	—	2023	→
Robust SNP-based prediction of rheumatoid arthritis through machine-learning-optimized polygenic risk score.	Lim AJW et al.	—	2023	→
SCLC: Epidemiology, Risk Factors, Genetic Susceptibility, Molecular Pathology, Screening, and Early Detection.	Wang Q et al.	—	2023	→
Sex differences in the influence of type 2 diabetes (T2D)-related genes, parental history of T2D, and obesity on T2D development: a case-control study.	Berumen J et al.	—	2023	→
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis.	Tesfaye M et al.	—	2023	→
Simultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data.	Majumdar S et al.	—	2023	→
Skeletal Class II Malocclusion: From Clinical Treatment Strategies to the Roadmap in Identifying the Genetic Bases of Development in Humans with the Support of the Collaborative Cross Mouse Population.	Lone IM et al.	—	2023	→
SMAP design: a multiplex PCR amplicon and gRNA design tool to screen for natural and CRISPR-induced genetic variation.	Develtere W et al.	—	2023	→
SNP-Based Heritability of Osteochondrosis Dissecans in Hanoverian Warmblood Horses.	Zimmermann E et al.	—	2023	→
Statistical Methods for Disease Risk Prediction with Genotype Data.	Xia X et al.	—	2023	→
Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder.	Kainer D et al.	—	2023	→
Summary statistics-based association test for identifying the pleiotropic effects with set of genetic variants.	Bu D et al.	—	2023	→
Systematic Review and Meta-analysis of Peripheral Blood DNA Methylation Studies in Inflammatory Bowel Disease.	Joustra V et al.	—	2023	→
The collaborative study on the genetics of alcoholism: Genetics.	Johnson EC et al.	—	2023	→
The design of mapping populations: Impacts of geographic scale on genetic architecture and mapping efficacy for defense and immunity.	Gloss AD et al.	—	2023	→
The elite variations in germplasms for soybean breeding.	Li D et al.	—	2023	→
The genetic background of female reproductive disorders: a systematic review.	Doulgeraki T et al.	—	2023	→
The genetics of autism and steroid-related traits in prenatal and postnatal life.	Tsompanidis A et al.	—	2023	→
The influence of expanded carrier screening in assisted reproductive techniques: changed the 'game'- review.	Drettas P et al.	—	2023	→
The limitations of phenotype prediction in metabolism.	Yubero P et al.	—	2023	→
The long-term effects of genomic selection: 2. Changes in allele frequencies of causal loci and new mutations.	Wientjes YCJ et al.	—	2023	→
The ME-BYO index: A development and validation project of a novel comprehensive health index.	Nakamura S et al.	—	2023	→
The molecular genetic basis of creativity: a mini review and perspectives.	Zhang S et al.	—	2023	→
The non-coding genome in Autism Spectrum Disorders.	Dominguez-Alonso S et al.	—	2023	→
The RNA interactome in the Hallmarks of Cancer.	Gabryelska MM et al.	—	2023	→
The role of admixture in the rare variant contribution to inflammatory bowel disease.	Astore C et al.	—	2023	→
The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration.	Ratnapriya R	—	2023	→
The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.	Sestan M et al.	—	2023	→
Toward a comprehensive catalog of regulatory elements.	Fan K et al.	—	2023	→
Trans-ancestry meta-analysis of genome wide association studies of inhibitory control.	Arnatkeviciute A et al.	—	2023	→
Transcriptional kinetic synergy: A complex landscape revealed by integrating modeling and synthetic biology.	Martinez-Corral R et al.	—	2023	→
Transcription factor binding site orientation and order are major drivers of gene regulatory activity.	Georgakopoulos-Soares I et al.	—	2023	→
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.	Marchi M et al.	—	2023	→
Uncovering complex trait heritability hidden in the repeatome.	Loh PR	—	2023	→
Unified views on variant impact across many diseases.	Kumar S et al.	—	2023	→
Weighted kernels improve multi-environment genomic prediction.	Hu X et al.	—	2023	→
Weighted multiple testing procedures in genome-wide association studies.	Obry L et al.	—	2023	→
Weighted Selection Probability to Prioritize Susceptible Rare Variants in Multi-Phenotype Association Studies with Application to a Soybean Genetic Data Set.	Liang X et al.	—	2023	→
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.	Pillalamarri V et al.	—	2023	→
Who Modifies the Modifiers: A High-Resolution View of the Genetic Modifiers of Cystic Fibrosis.	Kalra S et al.	—	2023	→
Why we need families in genomic research on developmental psychopathology.	Cheesman R et al.	—	2023	→
Wide and deep learning based approaches for classification of Alzheimer's disease using genome-wide association studies.	Alatrany AS et al.	—	2023	→
X-linked genes influence various complex traits in dairy cattle.	Sanchez MP et al.	—	2023	→
3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk.	Liu N et al.	—	2022	→
Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.	Liu B et al.	—	2022	→
A comprehensive comparison of multilocus association methods with summary statistics in genome-wide association studies.	Shao Z et al.	—	2022	→
A comprehensive review of the analysis and integration of omics data for SARS-CoV-2 and COVID-19.	Zhu Z et al.	—	2022	→
A computationally efficient clustering linear combination approach to jointly analyze multiple phenotypes for GWAS.	Wang M et al.	—	2022	→
A cross-scale approach to unravel the molecular basis of plant phenology in temperate and tropical climates.	Satake A et al.	—	2022	→
Adiponectin gene polymorphisms and posttraumatic stress disorder symptoms among female rape survivors: an exploratory study.	Vuong E et al.	—	2022	→
Adolescent Verbal Memory as a Psychosis Endophenotype: A Genome-Wide Association Study in an Ancestrally Diverse Sample.	Wang B et al.	—	2022	→
Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.	Pujol-Gualdo N et al.	—	2022	→
A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions.	Nudel R et al.	—	2022	→
A Final Frontier in Environment-Genome Interactions? Integrated, Multi-Omic Approaches to Predictions of Non-Communicable Disease Risk.	Noble AJ et al.	—	2022	→
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.	Li Z et al.	—	2022	→
Age at onset as stratifier in idiopathic Parkinson's disease - effect of ageing and polygenic risk score on clinical phenotypes.	Pavelka L et al.	—	2022	→
A general calculus of fitness landscapes finds genes under selection in cancers.	Hsu TK et al.	—	2022	→
A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.	Groen In 't Woud S et al.	—	2022	→
A guidance of model selection for genomic prediction based on linear mixed models for complex traits.	Duan J et al.	—	2022	→
A Large-Scale Genome-Wide Gene-Gene Interaction Study of Lung Cancer Susceptibility in Europeans With a Trans-Ethnic Validation in Asians.	Zhang R et al.	—	2022	→
Alcohol consumption, polygenic risk score, and early- and late-onset colorectal cancer risk.	Chen X et al.	—	2022	→
A meta-analysis on the heritability of vertebrate telomere length.	Chik HYJ et al.	—	2022	→
A Metabolomic Aging Clock Using Human Cerebrospinal Fluid.	Hwangbo N et al.	—	2022	→
An adaptive combination method for Cauchy variable based on optimal threshold.	Tang Y et al.	—	2022	→
Analytical and numerical comparisons of two methods of estimation of additive × additive × additive interaction of QTL effects.	Cyplik A et al.	—	2022	→
Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation.	Zhang QH et al.	—	2022	→
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.	Acosta-Uribe J et al.	—	2022	→
An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease.	Olinger E et al.	—	2022	→
An open science study of ageing in companion dogs.	Creevy KE et al.	—	2022	→
A Novel Multitasking Ant Colony Optimization Method for Detecting Multiorder SNP Interactions.	Tuo S et al.	—	2022	→
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome.	Horinouchi T et al.	—	2022	→
A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.	Garg P et al.	—	2022	→
Application of mixed linear models for the estimation of functional effects on bovine stature based on SNP summary statistics from a whole-genome association study.	Kotlarz K et al.	—	2022	→
A Prism Vote method for individualized risk prediction of traits in genotype data of Multi-population.	Xia X et al.	—	2022	→
A quantile integral linear model to quantify genetic effects on phenotypic variability.	Miao J et al.	—	2022	→
A review of SNP heritability estimation methods.	Tang M et al.	—	2022	→
A review on the application of the exposome paradigm to unveil the environmental determinants of age-related diseases.	Ding E et al.	—	2022	→
Artificial intelligence for precision medicine in autoimmune liver disease.	Gerussi A et al.	—	2022	→
Assessing accuracy of genotype imputation in the Afrikaner and Brahman cattle breeds of South Africa.	Mdyogolo S et al.	—	2022	→
Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study.	Msafiri Makene A et al.	—	2022	→
Association between de novo lipogenesis susceptibility genes and coronary artery disease.	Simons PIHG et al.	—	2022	→
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.	Usui Y et al.	—	2022	→
Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis.	Martínez-Magaña JJ et al.	—	2022	→
Association of mental health with the risk of coronary artery disease in patients with diabetes: A mendelian randomization study.	Hu T et al.	—	2022	→
Association of Polymorphism within the Putative miRNA Target Site in the 3'UTR Region of the <i>DRD2</i> Gene with Neuroticism in Patients with Substance Use Disorder.	Boroń A et al.	—	2022	→
Association Studies and Genomic Prediction for Genetic Improvements in Agriculture.	Zhang Q et al.	—	2022	→
Asthma and the Missing Heritability Problem: Necessity for Multiomics Approaches in Determining Accurate Risk Profiles.	Augustine T et al.	—	2022	→
Barcoded bulk QTL mapping reveals highly polygenic and epistatic architecture of complex traits in yeast.	Nguyen Ba AN et al.	—	2022	→
Bayesian mixed models for longitudinal genetic data: theory, concepts, and simulation studies.	Chung W et al.	—	2022	→
Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits.	O'Leary A et al.	—	2022	→
Bioinformatical analysis identifies PDLIM3 as a potential biomarker associated with immune infiltration in patients with endometriosis.	Gan L et al.	—	2022	→
Bridging the explanatory gaps: What can we learn from a biological agency perspective?	Sultan SE et al.	—	2022	→
Bridging the gap: Short structural variants in the genetics of anorexia nervosa.	Berthold N et al.	—	2022	→
Challenging a host-pathogen paradigm: Susceptibility to chytridiomycosis is decoupled from genetic erosion.	Smith D et al.	—	2022	→
Chromatin conformation of human oral epithelium can identify orofacial cleft missing functional variants.	Xiao Y et al.	—	2022	→
chromMAGMA: regulatory element-centric interrogation of risk variants.	Nameki R et al.	—	2022	→
Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease.	Huang J et al.	—	2022	→
Clinical validation of genomic functional screen data: Analysis of observed <i>BRCA1</i> variants in an unselected population cohort.	Schiabor Barrett KM et al.	—	2022	→
Co‑expressed microRNAs, target genes and pathways related to metabolism, inflammation and endocrine function in individuals at risk for type 2 diabetes.	Flowers E et al.	—	2022	→
Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.	Wang YC et al.	—	2022	→
Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology.	D'Silva S et al.	—	2022	→
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.	Amr A et al.	—	2022	→
Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.	DeVries AA et al.	—	2022	→
CRISPR Detection and Research on Screening Mutant Gene <i>TTN</i> of Moyamoya Disease Family Based on Whole Exome Sequencing.	Xiao Y et al.	—	2022	→
Decisive gene strategy on osteoporosis: a comprehensive whole-literature-based approach for conclusive candidate gene targets.	Chen YC et al.	—	2022	→
Decoding microbial genomes to understand their functional roles in human complex diseases.	Wang Y et al.	—	2022	→
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.	Dapas M et al.	—	2022	→
Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin Resistance in Obese Southern Europeans.	Bailetti D et al.	—	2022	→
Detection of Breeding-Relevant Fruit Cracking and Fruit Firmness Quantitative Trait Loci in Sweet Cherry <i>via</i> Pedigree-Based and Genome-Wide Association Approaches.	Crump WW et al.	—	2022	→
Differential gene expression orchestrated by transcription factors in osteoporosis: bioinformatics analysis of associated polymorphism elaborating functional relationships.	Wang CC et al.	—	2022	→
Differentially Methylated DNA Regions and Left Ventricular Hypertrophy in African Americans: A HyperGEN Study.	Jones AC et al.	—	2022	→
Different responses to risperidone treatment in Schizophrenia: a multicenter genome-wide association and whole exome sequencing joint study.	Zhao M et al.	—	2022	→
Different structural variant prediction tools yield considerably different results in Caenorhabditis elegans.	Lesack K et al.	—	2022	→
Dissecting Complex Traits Using Omics Data: A Review on the Linear Mixed Models and Their Application in GWAS.	Alamin M et al.	—	2022	→
Distribution of 54 polygenic risk scores for common diseases in long lived individuals and their offspring.	Gunn S et al.	—	2022	→
Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels.	Lea AJ et al.	—	2022	→
Does crime trigger genetic risk for type 2 diabetes in young adults? A G x E interaction study using national data.	Guo F et al.	—	2022	→
Editorial: Towards genome interpretation: Computational methods to model the genotype-phenotype relationship.	Raimondi D et al.	—	2022	→
Efficient testing and effect size estimation for set-based genetic association inference via semiparametric multilevel mixture modeling.	Sugasawa S et al.	—	2022	→
Environment-specific genomic prediction ability in maize using environmental covariates depends on environmental similarity to training data.	Rogers AR et al.	—	2022	→
EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants.	Parvandeh S et al.	—	2022	→
eQTLs as causal instruments for the reconstruction of hormone linked gene networks.	Bankier S et al.	—	2022	→
Establishment and validation of an aging-related risk signature associated with prognosis and tumor immune microenvironment in breast cancer.	Wang Z et al.	—	2022	→
Estimating effects of parents' cognitive and non-cognitive skills on offspring education using polygenic scores.	Demange PA et al.	—	2022	→
Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models.	Russ D et al.	—	2022	→
Evolutionary Origins of Metabolic Reprogramming in Cancer.	García-Sancha N et al.	—	2022	→
Evolution of polygenic traits under global vs local adaptation.	Yeaman S	—	2022	→
Exome variants associated with asthma and allergy.	Wjst M	—	2022	→
Expanding ACMG variant classification guidelines into a general framework.	Masson E et al.	—	2022	→
Exploring the optimal strategy of imputation from SNP array to whole-genome sequencing data in farm animals.	Jiang Y et al.	—	2022	→
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures.	Ma Y et al.	—	2022	→
Fourth Report on Chicken Genes and Chromosomes 2022.	Smith J et al.	—	2022	→
From genotype to phenotype in Arabidopsis thaliana: in-silico genome interpretation predicts 288 phenotypes from sequencing data.	Raimondi D et al.	—	2022	→
From Genotype to Phenotype: Polygenic Prediction of Complex Human Traits.	Raben TG et al.	—	2022	→
Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.	El-Boraie A et al.	—	2022	→
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.	Hamada S et al.	—	2022	→
Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.	Mannens MMAM et al.	—	2022	→
GCAT\|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.	Valls-Margarit J et al.	—	2022	→
Gene-environment interaction in type 2 diabetes in Korean cohorts: Interaction of a type 2 diabetes polygenic risk score with triglyceride and cholesterol on fasting glucose levels.	Lim JE et al.	—	2022	→
Genetic Analysis of Coronary Artery Disease Using Tree-Based Automated Machine Learning Informed By Biology-Based Feature Selection.	Manduchi E et al.	—	2022	→
Genetic architecture of natural variation of cardiac performance from flies to humans.	Saha S et al.	—	2022	→
Genetic association-based functional analysis detects <i>HOGA1</i> as a potential gene involved in fat accumulation.	Kim M et al.	—	2022	→
Genetic regulation and variation of expression of miRNA and mRNA transcripts in fetal muscle tissue in the context of sex, dam and variable fetal weight.	Ponsuksili S et al.	—	2022	→
Genetic Risk for Smoking: Disentangling Interplay Between Genes and Socioeconomic Status.	Pasman JA et al.	—	2022	→
Genetics and familial distribution of multiple sclerosis: A review.	Balcerac A et al.	—	2022	→
Genetics and functional genomics of multiple sclerosis.	Kim W et al.	—	2022	→
Genetics of Primary Biliary Cholangitis.	Gerussi A et al.	—	2022	→
Genetic variation in <i>ALDH4A1</i> is associated with muscle health over the lifespan and across species.	Villa O et al.	—	2022	→
Genome-by-Trauma Exposure Interactions in Adults With Depression in the UK Biobank.	Chuong M et al.	—	2022	→
Genome-wide analysis of deletions in maize population reveals abundant genetic diversity and functional impact.	Zhang X et al.	—	2022	→
Genome-wide association studies uncover genes associated with litter traits in the pig.	Zhao YX et al.	—	2022	→
Genome-Wide Association Study Identifies Genetic Variants Associated with Rotator Cuff Tear-A Pilot Study.	An HJ et al.	—	2022	→
Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study.	Fuse N et al.	—	2022	→
Genome-wide association study reveals structural chromosome variations with phenotypic effects in wheat (Triticum aestivum L.).	Zhao J et al.	—	2022	→
Genome-wide detection of copy number variation in American mink using whole-genome sequencing.	Davoudi P et al.	—	2022	→
Genome-wide imputed differential expression enrichment analysis identifies trait-relevant tissues.	Ghaffar A et al.	—	2022	→
Genome-wide variance quantitative trait locus analysis suggests small interaction effects in blood pressure traits.	Shi G	—	2022	→
Genomic Analysis of Resistance to Fall Armyworm (<i>Spodoptera frugiperda</i>) in CIMMYT Maize Lines.	Kamweru I et al.	—	2022	→
Genomic analysis reveals a polygenic architecture of antler morphology in wild red deer (Cervus elaphus).	Peters L et al.	—	2022	→
Genomic insights in ascending aortic size and distensibility.	Benjamins JW et al.	—	2022	→
Genomic interrogation of a MAGIC population highlights genetic factors controlling fiber quality traits in cotton.	Wang M et al.	—	2022	→
Genomic Regions Associated With Salinity Stress Tolerance in Tropical Maize (<i>Zea Mays L.</i>).	Zaidi PH et al.	—	2022	→
Genotyping, the Usefulness of Imputation to Increase SNP Density, and Imputation Methods and Tools.	Phocas F	—	2022	→
Global patterns of prognostic biomarkers across disease space.	Murad N et al.	—	2022	→
Graph pangenome captures missing heritability and empowers tomato breeding.	Zhou Y et al.	—	2022	→
GWAS and autoimmunity: What have we learned and what next.	Gerussi A et al.	—	2022	→
GWAS Case Studies in Wheat.	Sehgal D et al.	—	2022	→
GWAS in the southern African context.	Swart Y et al.	—	2022	→
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.	Andoni T et al.	—	2022	→
Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.	Saint Just Ribeiro M et al.	—	2022	→
Harnessing the Full Potential of Multi-Omic Analyses to Advance the Study and Treatment of Chronic Kidney Disease.	Hill C et al.	—	2022	→
Heritability of the glycan clock of biological age.	Mijakovac A et al.	—	2022	→
High-throughput approaches to functional characterization of genetic variation in yeast.	Yeh CC et al.	—	2022	→
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.	Crespo RP et al.	—	2022	→
How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.	Piras D et al.	—	2022	→
Hyperbolic Deep Neural Networks: A Survey.	Peng W et al.	—	2022	→
Identification of a SGCD × Discrimination Interaction Effect on Systolic Blood Pressure in African American Adults in the Jackson Heart Study.	Hsiao CJ et al.	—	2022	→
Identification of crucial factors involved in Cynoglossus semilaevis sexual size dimorphism by GWAS and demonstration of zbed1 regulatory network by DAP-seq.	Wang N et al.	—	2022	→
Identification of risk genes for Alzheimer's disease by gene embedding.	Lagisetty Y et al.	—	2022	→
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.	Monti R et al.	—	2022	→
Immuno-Modulatory Effects of Intervertebral Disc Cells.	Bermudez-Lekerika P et al.	—	2022	→
Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool.	Groenewoud D et al.	—	2022	→
Independent phenotypic plasticity axes define distinct obesity sub-types.	Yang CH et al.	—	2022	→
Integrative analysis reveals novel associations between DNA methylation and the serum metabolome of adolescents with type 2 diabetes: A cross-sectional study.	Agarwal P et al.	—	2022	→
Interaction between genetics and smoking in determining risk of coronary artery diseases.	Huang Y et al.	—	2022	→
Interpretable network-guided epistasis detection.	Duroux D et al.	—	2022	→
IPRS: Leveraging Gene-Environment Interaction to Reconstruct Polygenic Risk Score.	Tang Y et al.	—	2022	→
L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia.	Jahangir M et al.	—	2022	→
Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.	Tyrmi JS et al.	—	2022	→
Leveraging omics data to boost the power of genome-wide association studies.	Lin Z et al.	—	2022	→
Lifestyle Modifies the Diabetes-Related Metabolic Risk, Conditional on Individual Genetic Differences.	Shin J et al.	—	2022	→
Lightning progress in child neurology in the past 20 years.	Scheffer IE	—	2022	→
Linear Mixed-Effect Models Through the Lens of Hardy-Weinberg Disequilibrium.	Zhang L et al.	—	2022	→
LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population.	Giordo R et al.	—	2022	→
Major Depressive Disorder: Existing Hypotheses about Pathophysiological Mechanisms and New Genetic Findings.	Kamran M et al.	—	2022	→
Maximal Information Coefficient-Based Testing to Identify Epistasis in Case-Control Association Studies.	Guo Y et al.	—	2022	→
MethylScore, a pipeline for accurate and context-aware identification of differentially methylated regions from population-scale plant whole-genome bisulfite sequencing data.	Hüther P et al.	—	2022	→
Missing heritability found for height.	Kuchenbaecker K	—	2022	→
Molecular mechanisms underlying some major common risk factors of stroke.	Alkahtani R	—	2022	→
Multifactor dimensionality reduction reveals the effect of interaction between ERAP1 and IFIH1 polymorphisms in psoriasis susceptibility genes.	Zhang C et al.	—	2022	→
Multi-trait genomic prediction improves selection accuracy for enhancing seed mineral concentrations in pea.	Atanda SA et al.	—	2022	→
Mutation, selection, and the prevalence of the Caenorhabditis elegans heat-sensitive mortal germline phenotype.	Saber S et al.	—	2022	→
Nested epistasis enhancer networks for robust genome regulation.	Lin X et al.	—	2022	→
Network approaches for omics studies of neurodegenerative diseases.	Zhao N et al.	—	2022	→
Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases.	Boyd RJ et al.	—	2022	→
New insights into genetics underlying of plumage color.	Davoodi P et al.	—	2022	→
Nomograms of human hippocampal volume shifted by polygenic scores.	Janahi M et al.	—	2022	→
Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.	Haimov D et al.	—	2022	→
Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes.	Chen HH et al.	—	2022	→
Novel Human <i>FCGR1A</i> Variants Affect CD64 Functions and Are Risk Factors for Sarcoidosis.	Wu J et al.	—	2022	→
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.	Hong SM et al.	—	2022	→
Omnibus testing approach for gene-based gene-gene interaction.	Hébert F et al.	—	2022	→
On the genetic architecture of rapidly adapting and convergent life history traits in guppies.	Whiting JR et al.	—	2022	→
Open problems in human trait genetics.	Brandes N et al.	—	2022	→
Optimal experimental designs for estimating genetic and non-genetic effects underlying infectious disease transmission.	Pooley C et al.	—	2022	→
Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.	Yu X et al.	—	2022	→
Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives.	Tonyan ZN et al.	—	2022	→
Pancan-MNVQTLdb: systematic identification of multi-nucleotide variant quantitative trait loci in 33 cancer types.	Wang D et al.	—	2022	→
Pathophysiology of polycystic ovary syndrome revisited: Current understanding and perspectives regarding future research.	Harada M	—	2022	→
Pathophysiology, phenotypes and management of type 2 diabetes mellitus in Indian and Chinese populations.	Ke C et al.	—	2022	→
Polygenic and Network-based studies in risk identification and demystification of cancer.	El Hadi C et al.	—	2022	→
Polygenic risk, population structure and ongoing difficulties with race in human genetics.	Kaplan JM et al.	—	2022	→
Polygenic risk prediction based on singular value decomposition with applications to alcohol use disorder.	Yang JJ et al.	—	2022	→
Polygenic risk score for embryo selection-not ready for prime time.	Polyakov A et al.	—	2022	→
Polygenic scores: prediction versus explanation.	Plomin R et al.	—	2022	→
Polymorphisms and Gene-Gene Interaction in AGER/IL6 Pathway Might Be Associated with Diabetic Ischemic Heart Disease.	Liu K et al.	—	2022	→
Polympact: exploring functional relations among common human genetic variants.	Valentini S et al.	—	2022	→
Post-treatment effects of topiramate on alcohol-related outcomes: A combined analysis of two placebo-controlled trials.	Kranzler HR et al.	—	2022	→
Predicting Physical Appearance from DNA Data-Towards Genomic Solutions.	Pośpiech E et al.	—	2022	→
Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.	Kanwal A et al.	—	2022	→
Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia.	Koçoğlu C et al.	—	2022	→
Protein interaction networks define the genetic architecture of preterm birth.	Uzun A et al.	—	2022	→
Rare and population-specific functional variation across pig lines.	Ros-Freixedes R et al.	—	2022	→
Rare genetic variants explain missing heritability in smoking.	Jang SK et al.	—	2022	→
Rare POLN mutations confer risk for familial nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic replication.	Xiao RW et al.	—	2022	→
Rare Variant Analysis and Molecular Dynamics Simulation in Alzheimer's Disease Identifies Exonic Variants in FLG.	Xiong W et al.	—	2022	→
Rare variants and the oligogenic architecture of autism.	Wang T et al.	—	2022	→
Recent advances and challenges of rare variant association analysis in the biobank sequencing era.	Chen W et al.	—	2022	→
Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.	Prokopenko D et al.	—	2022	→
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer.	Cheng J et al.	—	2022	→
Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution.	Xiao X et al.	—	2022	→
Role of germline variants in the metastasis of breast carcinomas.	Santonja Á et al.	—	2022	→
Secondary analyses for genome-wide association studies using expression quantitative trait loci.	Ngwa JS et al.	—	2022	→
Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation.	Elorbany R et al.	—	2022	→
Sleep and Late-Onset Alzheimer's Disease: Shared Genetic Risk Factors, Drug Targets, Molecular Mechanisms, and Causal Effects.	Chen D et al.	—	2022	→
Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes.	Nazzicari N et al.	—	2022	→
Systematic Evaluation of Rheumatoid Arthritis Risk by Integrating Lifestyle Factors and Genetic Risk Scores.	Yu XH et al.	—	2022	→
Targeted Re-Sequencing of the 2p21 Locus Identifies Non-Syndromic Cleft Lip Only Novel Susceptibility Gene <i>ZFP36L2</i>.	Li MJ et al.	—	2022	→
Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.	Li MJ et al.	—	2022	→
TCDD induces cleft palate through exosomes derived from mesenchymal cells.	Chen Q et al.	—	2022	→
Ten challenges for clinical translation in psychiatric genetics.	Derks EM et al.	—	2022	→
The contribution of Neanderthal introgression to modern human traits.	Reilly PF et al.	—	2022	→
The Current Progress of Psychiatric Genomics.	Nishioka M	—	2022	→
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders.	Liaci C et al.	—	2022	→
The expected missing heritability of hidradenitis suppurativa in perspective.	van Straalen KR et al.	—	2022	→
The False Dawn of Polygenic Risk Scores for Human Disease Prediction.	Herzig AF et al.	—	2022	→
The genetic basis of spatial cognitive variation in a food-caching bird.	Branch CL et al.	—	2022	→
The impact of SNP density on quantitative genetic analyses of body size traits in a wild population of Soay sheep.	James C et al.	—	2022	→
The individual and global impact of copy-number variants on complex human traits.	Auwerx C et al.	—	2022	→
The influence of harshness and unpredictability on female sexual development: Addressing gene-environment interplay using a polygenic score.	Schlomer GL et al.	—	2022	→
The intergenerational transmission of educational attainment: A closer look at the (interrelated) roles of paternal involvement and genetic inheritance.	Verweij RM et al.	—	2022	→
The link between gestational diabetes and cardiovascular diseases: potential role of extracellular vesicles.	Ormazabal V et al.	—	2022	→
The long-term effects of genomic selection: 1. Response to selection, additive genetic variance, and genetic architecture.	Wientjes YCJ et al.	—	2022	→
The missing heritability in type 1 diabetes.	Pang H et al.	—	2022	→
The missing link between genetic association and regulatory function.	Connally NJ et al.	—	2022	→
The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.	Page ML et al.	—	2022	→
The role of gene-ambient air pollution interactions in paediatric asthma.	Kelchtermans J et al.	—	2022	→
The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.	Newton CA et al.	—	2022	→
The utility of a closed breeding colony of Peromyscus leucopus for dissecting complex traits.	Long PN et al.	—	2022	→
Three legs of the missing heritability problem.	Matthews LJ et al.	—	2022	→
Thyroid Function across the Lifespan: Do Age-Related Changes Matter?	Walsh JP	—	2022	→
Thyroid hormone elicits intergenerational epigenetic effects on adult social behavior and fetal brain expression of autism susceptibility genes.	Martinez ME et al.	—	2022	→
TLR7 gain-of-function genetic variation causes human lupus.	Brown GJ et al.	—	2022	→
transferGWAS: GWAS of images using deep transfer learning.	Kirchler M et al.	—	2022	→
Translational relevance of forward genetic screens in animal models for the study of psychiatric disease.	Sheardown E et al.	—	2022	→
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.	Zou WB et al.	—	2022	→
Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension.	Thomeas-McEwing V et al.	—	2022	→
UMOD and the architecture of kidney disease.	Devuyst O et al.	—	2022	→
Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.	Dikilitas O et al.	—	2022	→
Using potential variable to study gene-gene and gene-environment interaction effects with genetic model uncertainty.	Hu X et al.	—	2022	→
Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.	Horjus J et al.	—	2022	→
Whole Exome Sequencing Reveals Genetic Variants in HLA Class II Genes Associated With Transplant-free Survival of Indeterminate Acute Liver Failure.	Liao TJ et al.	—	2022	→
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.	Selvaraj MS et al.	—	2022	→
Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.	Shingu K et al.	—	2021	→
Allelic Variants Within the ABO Blood Group Phenotype Confer Protection Against Critical COVID-19 Hospital Presentation.	Jelinek HF et al.	—	2021	→
Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.	Laine P et al.	—	2021	→
Androgen-Binding Protein (Abp) Evolutionary History: Has Positive Selection Caused Fixation of Different Paralogs in Different Taxa of the Genus Mus?	Karn RC et al.	—	2021	→
Associated SNPs, Heritabilities, Trait Correlations, and Genomic Breeding Values for Resistance in Snap Beans (<i>Phaseolus vulgaris</i> L.) to Root Rot Caused by <i>Fusarium solani</i> (Mart.) f. sp. <i>phaseoli</i> (Burkholder).	Huster AR et al.	—	2021	→
[Chemical exposome and non-targeted approaches].	David A et al.	—	2021	→
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.	Jensen M et al.	—	2021	→
Comparing empirical kinship derived heritability for imaging genetics traits in the UK biobank and human connectome project.	Gao S et al.	—	2021	→
Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.	Clarelli F et al.	—	2021	→
Crossing design shapes patterns of genetic variation in synthetic recombinant populations of Saccharomyces cerevisiae.	Phillips MA et al.	—	2021	→
dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.	Ogishima S et al.	—	2021	→
Deciphering the Genetic Architecture of Plant Virus Resistance by GWAS, State of the Art and Potential Advances.	Monnot S et al.	—	2021	→
DNA Methylation and Type 2 Diabetes: Novel Biomarkers for Risk Assessment?	Raciti GA et al.	—	2021	→
Epigenome-Wide Histone Acetylation Changes in Peripheral Blood Mononuclear Cells in Patients with Type 2 Diabetes and Atherosclerotic Disease.	Bompada P et al.	—	2021	→
Examining the extent of environmental contributions toward DNA methylation and phenotypic variation.	Pacht E et al.	—	2021	→
Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations.	Guan Z et al.	—	2021	→
Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis.	Zöller B et al.	—	2021	→
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries.	Li B et al.	—	2021	→
Functional random forests for curve response.	Fu G et al.	—	2021	→
Gene-Based Testing of Interactions Using XGBoost in Genome-Wide Association Studies.	Guo Y et al.	—	2021	→
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing.	Kang HJ et al.	—	2021	→
Genetic dissection of growth trajectories in forest trees: From FunMap to FunGraph.	Feng L et al.	—	2021	→
Genetic Pathways and Functional Subnetworks for the Complex Nature of Bipolar Disorder in Genome-Wide Association Study.	Kuo CY et al.	—	2021	→
Genetics of prostate cancer and its utility in treatment and screening.	Benafif S et al.	—	2021	→
Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies.	Cozzoli D et al.	—	2021	→
Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans.	Wang Y et al.	—	2021	→
Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.	Xu P et al.	—	2021	→
Glycan Activation of Clec4b Induces Reactive Oxygen Species Protecting against Neutrophilia and Arthritis.	Aoun M et al.	—	2021	→
Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.	Fazia T et al.	—	2021	→
Host genetics of pediatric SARS-CoV-2 COVID-19 and multisystem inflammatory syndrome in children.	Schulert GS et al.	—	2021	→
Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.	Zhou D et al.	—	2021	→
Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities.	Du X et al.	—	2021	→
Identifying complex gene-gene interactions: a mixed kernel omnibus testing approach.	Liu Y et al.	—	2021	→
Improved pathogenicity prediction for rare human missense variants.	Wu Y et al.	—	2021	→
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature.	Teruel M et al.	—	2021	→
Integrative eQTL-weighted hierarchical Cox models for SNP-set based time-to-event association studies.	Lu H et al.	—	2021	→
Interaction-Based Feature Selection Algorithm Outperforms Polygenic Risk Score in Predicting Parkinson's Disease Status.	Cope JL et al.	—	2021	→
Leptin Protein Expression and Promoter Methylation in Ovarian Cancer: A Strong Prognostic Value with Theranostic Promises.	Assidi M et al.	—	2021	→
Meta-Analysis of Joint Test of SNP and SNP-Environment Interaction with Heterogeneity.	Jin Q et al.	—	2021	→
Metabolomics of neurological disorders in India.	Gupta S et al.	—	2021	→
Missense variant in interleukin-6 signal transducer identified as susceptibility locus for rheumatoid arthritis in Chinese patients.	Pang Leong K et al.	—	2021	→
Non-linear interaction between physical activity and polygenic risk score of body mass index in Danish and Russian populations.	Borisevich D et al.	—	2021	→
Polygenic risk scores and rheumatic diseases.	Brown MA et al.	—	2021	→
Smooth-threshold multivariate genetic prediction incorporating gene-environment interactions.	Ueki M et al.	—	2021	→
SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits.	Oppong RF et al.	—	2021	→
Special Focus Issue - Epigenomics and health disparities.	Argentieri MA et al.	—	2021	→
Suitability of GWAS as a Tool to Discover SNPs Associated with Tick Resistance in Cattle: A Review.	Mkize N et al.	—	2021	→
Systematic Review of Genomic Associations with Blood Pressure and Hypertension in Populations with African-Ancestry.	Singh S et al.	—	2021	→
Testing Gene-Gene Interactions Based on a Neighborhood Perspective in Genome-wide Association Studies.	Guo Y et al.	—	2021	→
The Application of Projection Word Embeddings on Medical Records Scoring System.	Lin C et al.	—	2021	→
The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus.	López-Portillo ML et al.	—	2021	→
The crucial role of genome-wide genetic variation in conservation.	Kardos M et al.	—	2021	→
The identification of grain size genes by RapMap reveals directional selection during rice domestication.	Zhang J et al.	—	2021	→
The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.	Tsai DJ et al.	—	2021	→
Transcriptome-Wide Association Study Provides Insights Into the Genetic Component of Gene Expression in Anxiety.	Su X et al.	—	2021	→
Unravelling Rubber Tree Growth by Integrating GWAS and Biological Network-Based Approaches.	Francisco FR et al.	—	2021	→
Using Genomic Techniques in Sports and Exercise Science: Current Status and Future Opportunities.	Griswold AJ et al.	—	2021	→
Using Machine Learning to Predict Obesity Based on Genome-Wide and Epigenome-Wide Gene-Gene and Gene-Diet Interactions.	Lee YC et al.	—	2021	→
VCSEL: PRIORITIZING SNP-SET BY PENALIZED VARIANCE COMPONENT SELECTION.	Kim J et al.	—	2021	→