A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.
- Authors
- Howie, Bryan N; Donnelly, Peter; Marchini, Jonathan
- Year
- 2009
- Journal
- PLoS genetics
- PMID
- 19543373
- DOI
- 10.1371/journal.pgen.1000529
- PMCID
- PMC2689936
Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most imputation analyses to date have used the HapMap as a reference dataset, but new reference panels (such as controls genotyped on multiple SNP chips and densely typed samples from the 1,000 Genomes Project) will soon allow a broader range of SNPs to be imputed with higher accuracy, thereby increasing power. We describe a genotype imputation method (IMPUTE version 2) that is designed to address the challenges presented by these new datasets. The main innovation of our approach is a flexible modelling framework that increases accuracy and combines information across multiple reference panels while remaining computationally feasible. We find that IMPUTE v2 attains higher accuracy than other methods when the HapMap provides the sole reference panel, but that the size of the panel constrains the improvements that can be made. We also find that imputation accuracy can be greatly enhanced by expanding the reference panel to contain thousands of chromosomes and that IMPUTE v2 outperforms other methods in this setting at both rare and common SNPs, with overall error rates that are 15%-20% lower than those of the closest competing method. One particularly challenging aspect of next-generation association studies is to integrate information across multiple reference panels genotyped on different sets of SNPs; we show that our approach to this problem has practical advantages over other suggested solutions.
Schematic drawing of imputation Scenario A.In this drawing, haplotypes are represented as horizontal boxes containing 0's and 1's (for alternate SNP alleles), and unphased genotypes are represented as rows of 0's, 1's, 2's, and ?'s (where ‘1’ is the heterozygous state and ‘?’ denotes a missing genotype). The SNPs (columns) in the dataset can be partitioned into two disjoint sets: a set T (blue) that is genotyped in all individuals and a set U (green) that is genotyped only in the haploid reference panel. The goal of imputation in this scenario is to estimate the genotypes of SNPs in set U in the study sample.
Schematic drawing of imputation Scenario B.In this drawing, haplotypes are represented as horizontal boxes containing 0's and 1's (for alternate SNP alleles), and unphased genotypes are represented as rows of 0's, 1's, 2's, and ?'s (where ‘1’ is the heterozygous state and ‘?’ denotes a missing genotype). The SNPs (columns) in the dataset can be partitioned into three disjoint sets: a set T (blue) that is genotyped in all individuals, a set U2 (yellow) that is genotyped in both the haploid and diploid reference panels but not the study sample, and a set U1 (green) that is genotyped only in the haploid reference panel. The goal of imputation in this scenario is to estimate the genotypes of SNPs in set U2 in the study sample and SNPs in the set U1 in both the study sample and, if desired, the diploid reference panel.
Percentage discordance versus percentage missing genotypes for Scenario A dataset.(A) Full range of results, corresponding to calling thresholds from 0.33 to 0.99. (B) Magnified results for calling thresholds near 0.99. (C) Magnified results for calling thresholds near 0.33.
Percentage discordance versus percentage missing genotypes for restricted Scenario B dataset.(A) Results for masked Illumina genotypes imputed from Affymetrix genotypes in the study sample. (B) Results for masked Affymetrix genotypes imputed from Illumina genotypes in the study sample. (C) Results for masked Illumina genotypes (SNPs with MAF<5% only) imputed from Affymetrix genotypes in the study sample. (D) Results for masked Affymetrix genotypes (SNPs with MAF<5% only) imputed from Illumina genotypes in the study sample.
Percentage discordance versus percentage missing genotypes for full Scenario B dataset.(A) Results for masked Illumina genotypes imputed from Affymetrix genotypes in the study sample. (B) Results for masked Affymetrix genotypes imputed from Illumina genotypes in the study sample. Solid lines were obtained from the restricted Scenario B dataset (Figure 4) and are shown for reference; dashed lines were obtained from the full Scenario B dataset.
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| Association of clinical parameters and polygenic risk scores for body mass index, schizophrenia, and diabetes with antipsychotic-induced weight gain. | Franz M et al. | — | 2024 | → |
| Association of CYP2D6 and CYP2C19 metabolizer status with switching and discontinuing antidepressant drugs: an exploratory study. | Brouwer JMJL et al. | — | 2024 | → |
| Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis. | Yu H et al. | — | 2024 | → |
| Association of Poor Oral Health With Neuroimaging Markers of White Matter Injury in Middle-Aged Participants in the UK Biobank. | Rivier CA et al. | — | 2024 | → |
| Blood-derived microRNAs are related to cognitive domains in the general population. | Melas K et al. | — | 2024 | → |
| BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability. | Hoggart CJ et al. | — | 2024 | → |
| Causal effects of cardiovascular health on five epigenetic clocks. | Sung HL et al. | — | 2024 | → |
| Characterizing Common and Rare Variations in Nontraditional Glycemic Biomarkers Using Multivariate Approaches on Multiancestry ARIC Study. | Ray D et al. | — | 2024 | → |
| Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort. | Pecori A et al. | — | 2024 | → |
| Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. | Qiao L et al. | — | 2024 | → |
| Complementation testing identifies genes mediating effects at quantitative trait loci underlying fear-related behavior. | Chen PB et al. | — | 2024 | → |
| Cumulative Effects of Resting-State Connectivity Across All Brain Networks Significantly Correlate with Attention-Deficit Hyperactivity Disorder Symptoms. | Mooney MA et al. | — | 2024 | → |
| Detecting gene-environment interactions from multiple continuous traits. | Lin WY | — | 2024 | → |
| Development and evaluation of a polygenic risk score for lung cancer in never-smoking women: A large-scale prospective Chinese cohort study. | Wei X et al. | — | 2024 | → |
| Differential Effects of HLA-B∗15:11 and HLA-A∗31:01 on Carbamazepine-Induced Cutaneous Adverse Reactions. | Fukunaga K et al. | — | 2024 | → |
| Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan. | Chen HL et al. | — | 2024 | → |
| Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder. | Yang Y et al. | — | 2024 | → |
| Elucidating the role of blood metabolites on pancreatic cancer risk using two-sample Mendelian randomization analysis. | Zhong H et al. | — | 2024 | → |
| Enhancing animal breeding through quality control in genomic data - a review. | Lee J et al. | — | 2024 | → |
| Evaluating multiple sclerosis severity loci 30 years after a clinically isolated syndrome. | Sahi N et al. | — | 2024 | → |
| Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease. | Hsi RS et al. | — | 2024 | → |
| Evaluation of Polygenic Risk Scores for Prediction of Coronary Artery Disease in a Greek Case-Control Study. | Dimitriou M et al. | — | 2024 | → |
| Evidence for a causal link between intra-pancreatic fat deposition and pancreatic cancer: A prospective cohort and Mendelian randomization study. | Yamazaki H et al. | — | 2024 | → |
| Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements. | Bargary G et al. | — | 2024 | → |
| Exact Decoding of a Sequentially Markov Coalescent Model in Genetics. | Ki C et al. | — | 2024 | → |
| Factor analysis of lifetime psychopathology and its brain morphometric and genetic correlates in a transdiagnostic sample. | Krug A et al. | — | 2024 | → |
| FOXO-regulated OSER1 reduces oxidative stress and extends lifespan in multiple species. | Song J et al. | — | 2024 | → |
| Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people. | Koyanagi YN et al. | — | 2024 | → |
| Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology. | Madsen AL et al. | — | 2024 | → |
| Genetic liability for gastrointestinal inflammation disorders and association with gastrointestinal symptoms in children with and without autism. | Morrill V et al. | — | 2024 | → |
| Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. | Lincoln MR et al. | — | 2024 | → |
| Genetic network structure of 13 psychiatric disorders in the general population. | Ihm HK et al. | — | 2024 | → |
| Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population. | Takase M et al. | — | 2024 | → |
| Genetic Variants Associated with Sweat Gland Phenotypes in 6210 Han Chinese Individuals. | Chen W et al. | — | 2024 | → |
| Genetic variants in <i>C1GALT1</i> are associated with gastric cancer risk by influencing immune infiltration. | Guo M et al. | — | 2024 | → |
| Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women. | Cai Y et al. | — | 2024 | → |
| Genome-wide association and polygenic risk score estimation of type 2 diabetes mellitus in Kinh Vietnamese-A pilot study. | Mai TP et al. | — | 2024 | → |
| Genome-wide association study based on clustering by obesity-related variables uncovers a genetic architecture of obesity in the Japanese and the UK populations. | Takahashi I et al. | — | 2024 | → |
| Genome-wide association study of early-onset and late-onset postpartum depression: the IGEDEPP prospective study. | Tebeka S et al. | — | 2024 | → |
| Genome-wide association study of metabolic dysfunction-associated fatty liver disease in a Korean population. | Lee Y et al. | — | 2024 | → |
| Genome-wide association study of nausea and vomiting during pregnancy in Japan: the TMM BirThree Cohort Study. | Yonezawa Y et al. | — | 2024 | → |
| Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations. | Salo V et al. | — | 2024 | → |
| Genome-wide screen to identify genetic loci associated with cognitive decline in late-life depression. | Steffens DC et al. | — | 2024 | → |
| Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients. | Mufti K et al. | — | 2024 | → |
| Genotype-based "virtual" metabolomics in a clinical biobank identifies novel metabolite-disease associations. | Bagheri M et al. | — | 2024 | → |
| Genotype imputation in F2 crosses of inbred lines. | Pierotti S et al. | — | 2024 | → |
| Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer. | Liu Y et al. | — | 2024 | → |
| GWAS-based polygenic risk scoring for predicting cerebral artery dissection in the Chinese population. | Zhang S et al. | — | 2024 | → |
| GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal. | Senftleber NK et al. | — | 2024 | → |
| HaplotagLR: An efficient and configurable utility for haplotagging long reads. | Holmes MJ et al. | — | 2024 | → |
| Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort. | Bhowmik N et al. | — | 2024 | → |
| Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | Tang X et al. | — | 2024 | → |
| Identification of novel proteins for coronary artery disease by integrating GWAS data and human plasma proteomes. | Li J et al. | — | 2024 | → |
| Identifying genetic variants associated with chromatin looping and genome function. | Bhattacharyya S et al. | — | 2024 | → |
| Impact of CCR5Δ32 on the risk of infection, Staphylococcus aureus carriage, and plasma concentrations of chemokines in Danish blood donors. | Dinh KM et al. | — | 2024 | → |
| Impact of hyperuricemia on CKD risk beyond genetic predisposition in a population-based cohort study. | Kim Y et al. | — | 2024 | → |
| Increased Genetic Risk for β-Cell Failure Is Associated With β-Cell Function Decline in People With Prediabetes. | Billings LK et al. | — | 2024 | → |
| Induced and natural variation affect traits independently in hybrid Populus. | Guo W et al. | — | 2024 | → |
| Influence of blood pressure polygenic risk scores and environmental factors on coronary artery disease in the Korean Genome and Epidemiology Study. | Woo K et al. | — | 2024 | → |
| Integrated systematic functional screen and fine-mapping decipher the role and genetic regulation of RPS19 in colorectal cancer development. | Chen C et al. | — | 2024 | → |
| JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression. | Mbatchou J et al. | — | 2024 | → |
| Large-scale cross-ancestry genome-wide meta-analysis of serum urate. | Cho C et al. | — | 2024 | → |
| Longitudinal markers of cognitive procedural learning in fronto-striatal circuits and putative effects of a BDNF plasticity-related variant. | Geiger LS et al. | — | 2024 | → |
| Long-term longitudinal analysis of 4,187 participants reveals insights into determinants of clonal hematopoiesis. | Uddin MM et al. | — | 2024 | → |
| Machine Learning Prediction of Treatment Response to Inhaled Corticosteroids in Asthma. | Ong MS et al. | — | 2024 | → |
| MANOCCA: a robust and computationally efficient test of covariance in high-dimension multivariate omics data. | Boetto C et al. | — | 2024 | → |
| Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry. | Asiimwe IG et al. | — | 2024 | → |
| Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture. | Schurz H et al. | — | 2024 | → |
| Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk. | Carreras-Torres R et al. | — | 2024 | → |
| Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians. | Ramírez-Luzuriaga MJ et al. | — | 2024 | → |
| Peripheral whole blood microRNA expression in relation to vascular function: a population-based study. | Talevi V et al. | — | 2024 | → |
| Phased nanopore assembly with Shasta and modular graph phasing with GFAse. | Lorig-Roach R et al. | — | 2024 | → |
| Phenome-wide association studies between <i>SERINC2</i> and neuropsychiatric disorders. | Liu P et al. | — | 2024 | → |
| Phenotypic Associations With the HMOX1 GT(n) Repeat in European Populations. | Hamilton F et al. | — | 2024 | → |
| Polygenic Prediction of Keratoconus and its Measures: Cross-Sectional and Longitudinal Analyses in Community-Based Young Adults. | Lee SS et al. | — | 2024 | → |
| Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder. | LaBianca S et al. | — | 2024 | → |
| Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks. | Yun JS et al. | — | 2024 | → |
| Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. | Lee YC et al. | — | 2024 | → |
| Polygenic score analyses on antidepressant response in late-life depression, results from the IRL-GRey study. | Elsheikh SSM et al. | — | 2024 | → |
| Polygenic Score for Conscientiousness Is a Protective Factor for Reversion from Mild Cognitive Impairment to Normal Cognition. | Yang X et al. | — | 2024 | → |
| Proteome-wide association study and functional validation identify novel protein markers for pancreatic ductal adenocarcinoma. | Zhu J et al. | — | 2024 | → |
| Quantifying the relative importance of genetics and environment on the comorbidity between mental and cardiometabolic disorders using 17 million Scandinavians. | Meijsen J et al. | — | 2024 | → |
| Quantitative trait locus mapping in placenta: A comparative study of chorionic villus and birth placenta. | Dieckmann L et al. | — | 2024 | → |
| Regulome-wide association study identifies genetically driven accessible regions associated with pancreatic cancer risk. | Liu S et al. | — | 2024 | → |
| RETROSPECTIVE VARYING COEFFICIENT ASSOCIATION ANALYSIS OF LONGITUDINAL BINARY TRAITS: APPLICATION TO THE IDENTIFICATION OF GENETIC LOCI ASSOCIATED WITH HYPERTENSION. | Xu G et al. | — | 2024 | → |
| Sequencing whole genomes of the West Javanese population in Indonesia reveals novel variants and improves imputation accuracy. | Ardiansyah E et al. | — | 2024 | → |
| Serum 25-Hydroxyvitamin D and Risk of Disability in Activities of Daily Living among the Oldest-Old: An Observational and Mendelian Randomization Study. | Li X et al. | — | 2024 | → |
| Sex-specific associations between dietary legume subtypes and type 2 diabetes in a prospective cohort study. | Woo HW et al. | — | 2024 | → |
| Single-cell 'omic profiles of human aortic endothelial cells in vitro and human atherosclerotic lesions ex vivo reveal heterogeneity of endothelial subtype and response to activating perturbations. | Adelus ML et al. | — | 2024 | → |
| SNP Genotype Imputation in Forensics-A Performance Study. | Tillmar A et al. | — | 2024 | → |
| The construction of a novel prognostic prediction model for glioma based on GWAS-identified prognostic-related risk loci. | Wei J et al. | — | 2024 | → |
| The genetic causal relationship between type 2 diabetes, glycemic traits and venous thromboembolism, deep vein thrombosis, pulmonary embolism: a two-sample Mendelian randomization study. | Yang M et al. | — | 2024 | → |
| The genetic regulation of the gastric transcriptome is associated with metabolic and obesity-related traits and diseases. | Koebbe LL et al. | — | 2024 | → |
| The hazards of genotype imputation when mapping disease susceptibility variants. | Lau W et al. | — | 2024 | → |
| The interplay between polygenic score for tumor necrosis factor-α, brain structural connectivity, and processing speed in major depression. | Flinkenflügel K et al. | — | 2024 | → |
| The landscape of drug sensitivity and resistance in sarcoma. | Al Shihabi A et al. | — | 2024 | → |
| The largest genome-wide association study for breast cancer in Taiwanese Han population. | Hsu YC et al. | — | 2024 | → |
| The predictive capacity of polygenic risk scores for disease risk is only moderately influenced by imputation panels tailored to the target population. | Levi H et al. | — | 2024 | → |
| Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes. | Kojima K et al. | — | 2024 | → |
| A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort. | Karimi M et al. | — | 2023 | → |
| Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank. | Hofmeister RJ et al. | — | 2023 | → |
| Achieving improved accuracy for imputation of ancient DNA. | Ausmees K et al. | — | 2023 | → |
| Adolescent anxiety and pain problems: A joint, genome-wide investigation and pathway-based analysis. | Mascheretti S et al. | — | 2023 | → |
| A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy. | Gasperi C et al. | — | 2023 | → |
| A haptoglobin (HP) structural variant alters the effect of APOE alleles on Alzheimer's disease. | Bai H et al. | — | 2023 | → |
| Analytical Approaches to Uncover Genetic Associations for Rare Outcomes: Lessons from West Nile Neuroinvasive Disease. | Cahill ME et al. | — | 2023 | → |
| An empirical investigation into the impact of winner's curse on estimates from Mendelian randomization. | Jiang T et al. | — | 2023 | → |
| An immunogenetic investigation of 30 autoimmune and autoinflammatory diseases and their links to psychiatric disorders in a nationwide sample. | Nudel R et al. | — | 2023 | → |
| A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study. | Guo X et al. | — | 2023 | → |
| A rapid and reference-free imputation method for low-cost genotyping platforms. | Chi Duong V et al. | — | 2023 | → |
| A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression. | Li Y et al. | — | 2023 | → |
| A significant, functional and replicable risk KTN1 variant block for schizophrenia. | Mao Q et al. | — | 2023 | → |
| Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases. | Emani PS et al. | — | 2023 | → |
| Association of high-sensitivity C-reactive protein and diabetic nephropathy in patients with type 2 diabetes: a Mendelian randomization study. | Lin CC et al. | — | 2023 | → |
| Association of IGF1R polymorphisms with kidney function-related traits. | Park S et al. | — | 2023 | → |
| Associations between genetically predicted levels of blood metabolites and pancreatic cancer risk. | Zhong H et al. | — | 2023 | → |
| Associations between MICA and MICB Genetic Variants, Protein Levels, and Colorectal Cancer: Atherosclerosis Risk in Communities (ARIC). | Wang S et al. | — | 2023 | → |
| A two-stage genome-wide association study identified four potential early-onset nonsmall cell lung cancer risk loci based on 26,652 participants in Chinese population. | Fan J et al. | — | 2023 | → |
| CAS Array: design and assessment of a genotyping array for Chinese biobanking. | Tian Z et al. | — | 2023 | → |
| Case-case genome-wide association analysis identifying genetic loci with divergent effects on Crohn's disease and ulcerative colitis. | Jung S et al. | — | 2023 | → |
| Causal associations between cardiorespiratory fitness and type 2 diabetes. | Cai L et al. | — | 2023 | → |
| Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants. | Wang A et al. | — | 2023 | → |
| Cis-meQTL for cocaine use-associated DNA methylation in an HIV-positive cohort show pleiotropic effects on multiple traits. | Cheng Y et al. | — | 2023 | → |
| CMDB: the comprehensive population genome variation database of China. | Li Z et al. | — | 2023 | → |
| Cold-induced vasodilation response in a Japanese cohort: insights from cold-water immersion and genome-wide association studies. | Yasukochi Y et al. | — | 2023 | → |
| Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. | Li Y et al. | — | 2023 | → |
| Comparison of the loci associated with HbA1c and blood glucose levels identified by a genome-wide association study in the Japanese population. | Sakashita T et al. | — | 2023 | → |
| Constructing a polygenic risk score for childhood obesity using functional data analysis. | Craig SJC et al. | — | 2023 | → |
| Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D. | Wang X et al. | — | 2023 | → |
| Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes. | Liu N et al. | — | 2023 | → |
| Current Status and Future Prospects of Inflammatory Bowel Disease Genetics. | Kakuta Y et al. | — | 2023 | → |
| Detection of trait-associated structural variations using short-read sequencing. | Kosugi S et al. | — | 2023 | → |
| Dissecting the genetic heterogeneity of gastric cancer. | Hess T et al. | — | 2023 | → |
| Effects of the <i>ABCC8</i> R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy. | Vazquez Arreola E et al. | — | 2023 | → |
| Elucidating the process of SNPs identification in non-reference genome crops. | Sudan J et al. | — | 2023 | → |
| Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes. | Fragoso-Bargas N et al. | — | 2023 | → |
| Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. | Levi H et al. | — | 2023 | → |
| Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum. | Herrera-Rivero M et al. | — | 2023 | → |
| Examining interactions between polygenic scores and interpersonal trauma exposure on alcohol consumption and use disorder in an ancestrally diverse college cohort. | Sheerin CM et al. | — | 2023 | → |
| Fantastic genes: where and how to find them? Exploiting rice genetic resources for the improvement of yield, tolerance, and resistance to a wide array of stresses in rice. | Reyes VP | — | 2023 | → |
| Fast, accurate local ancestry inference with FLARE. | Browning SR et al. | — | 2023 | → |
| Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study. | Webber DM et al. | — | 2023 | → |
| Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors. | Cha J et al. | — | 2023 | → |
| Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits. | Brown AA et al. | — | 2023 | → |
| Genetic and epidemiological analyses of infection load and its relationship with psychiatric disorders. | Nudel R et al. | — | 2023 | → |
| Genetic contributions to transdiagnostic symptom dimensions in patients with major depressive disorder, bipolar disorder, and schizophrenia spectrum disorders. | David FS et al. | — | 2023 | → |
| Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci. | Zidane M et al. | — | 2023 | → |
| Genetic influences on the interplay between obsessive-compulsive behavior symptoms and cannabis use during adolescence. | Kutzner J et al. | — | 2023 | → |
| Genetic insights into resting heart rate and its role in cardiovascular disease. | van de Vegte YJ et al. | — | 2023 | → |
| Genetic liability to suicidal thoughts and behaviors and risk of suicide attempt in US military veterans: moderating effects of cumulative trauma burden. | Nichter B et al. | — | 2023 | → |
| Genetic Risk, Neighborhood Characteristics, and Behavioral Difficulties Among African American Adolescents Living in Very Low-Income Neighborhoods. | Sterrett-Hong EM et al. | — | 2023 | → |
| Genetic Risk Score for Prediction of Coronary Heart Disease in the Korean Genome and Epidemiology Study. | Yun H et al. | — | 2023 | → |
| Genetic Validation of Psoriasis Phenotyping in UK Biobank Supports the Utility of Self-Reported Data and Composite Definitions for Large Genetic and Epidemiological Studies. | Saklatvala JR et al. | — | 2023 | → |
| Genome-wide assessment reveals a significant association between ACSS3 and physical activity. | Jo J et al. | — | 2023 | → |
| Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy. | Ning C et al. | — | 2023 | → |
| Genome-wide Association Studies Categorized by Class of Antihypertensive Drugs Reveal Complex Pathogenesis of Hypertension with Drug Resistance. | Yamazaki K et al. | — | 2023 | → |
| Genome-Wide Association Studies of Diarrhea Frequency and Duration in the First Year of Life in Bangladeshi Infants. | Munday RM et al. | — | 2023 | → |
| Genome-wide association studies of human and rat BMI converge on synapse, epigenome, and hormone signaling networks. | Wright SN et al. | — | 2023 | → |
| Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon. | Esoh KK et al. | — | 2023 | → |
| Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study. | Dueker N et al. | — | 2023 | → |
| Genome-wide association study of Helicobacter pylori serological status in Latin American children. | Lima IS et al. | — | 2023 | → |
| Genome-wide association study of hippocampal blood-oxygen-level-dependent-cerebral blood flow correlation in Chinese Han population. | Xue H et al. | — | 2023 | → |
| Genome-Wide Association Study of Rice Grain Shape and Chalkiness in a Worldwide Collection of Xian Accessions. | Wang N et al. | — | 2023 | → |
| Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator. | Cardinale CJ et al. | — | 2023 | → |
| Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank. | Sugawara Y et al. | — | 2023 | → |
| Genome-wide association study on coordination and agility in 461 Chinese Han males. | Wang Y et al. | — | 2023 | → |
| Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population. | Jin H et al. | — | 2023 | → |
| Genome-wide genotyping data renew knowledge on genetic diversity of a worldwide alfalfa collection and give insights on genetic control of phenology traits. | Pégard M et al. | — | 2023 | → |
| Genome-wide Mendelian randomization identifies putatively causal gut microbiota for multiple peptic ulcer diseases. | Zhao J et al. | — | 2023 | → |
| Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy. | Garrett ME et al. | — | 2023 | → |
| Genome-wide study of genetic polymorphisms predictive for outcome from first-line oxaliplatin-based chemotherapy in colorectal cancer patients. | Park HA et al. | — | 2023 | → |
| Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition. | Hu W et al. | — | 2023 | → |
| Genomic prediction of rice mesocotyl length indicative of directing seeding suitability using a half-sib hybrid population. | Chen L et al. | — | 2023 | → |
| Genomic Scan for Runs of Homozygosity and Selective Signature Analysis to Identify Candidate Genes in Large White Pigs. | Yin C et al. | — | 2023 | → |
| Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels. | Shi M et al. | — | 2023 | → |
| Genotyping and population characteristics of the China Kadoorie Biobank. | Walters RG et al. | — | 2023 | → |
| Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. | Wills C et al. | — | 2023 | → |
| GWAS meta-analysis of 16 790 patients with Barrett's oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level. | Schröder J et al. | — | 2023 | → |
| Heritability of cognitive abilities and regional brain structures in middle-aged to elderly East Asians. | Lee Y et al. | — | 2023 | → |
| HSPA12A was identified as a key driver in colorectal cancer GWAS loci 10q26.12 and modulated by an enhancer-promoter interaction. | Lu Z et al. | — | 2023 | → |
| <i>CFDP1</i> is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. | Formicola D et al. | — | 2023 | → |
| Identification of Genetic Markers Linked to The Activity of Indoleamine 2,3-Dioxygenase and Kidney Function. | Kim HR et al. | — | 2023 | → |
| Identification of Genetic Variation Influencing Metformin Response in a Multiancestry Genome-Wide Association Study in the Diabetes Prevention Program (DPP). | Li JH et al. | — | 2023 | → |
| Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population. | Rouskas K et al. | — | 2023 | → |
| Immune-response 3'UTR alternative polyadenylation quantitative trait loci contribute to variation in human complex traits and diseases. | Li L et al. | — | 2023 | → |
| Imputation of ancient human genomes. | Sousa da Mota B et al. | — | 2023 | → |
| Imputation strategies for genomic prediction using nanopore sequencing. | Lamb HJ et al. | — | 2023 | → |
| Increased transferrin protects from thrombosis in Chuvash erythrocytosis. | Shah BN et al. | — | 2023 | → |
| Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium. | Young KL et al. | — | 2023 | → |
| Interplay between hereditary and acquired factors determines the neutrophil counts in older individuals. | Gagnon MF et al. | — | 2023 | → |
| Invited review: Good practices in genome-wide association studies to identify candidate sequence variants in dairy cattle. | Sahana G et al. | — | 2023 | → |
| <i>RASA3</i> is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension. | Prohaska CC et al. | — | 2023 | → |
| Leveraging genetic overlap between irritability and psychiatric disorders to identify genetic variants of major psychiatric disorders. | Jung K et al. | — | 2023 | → |
| Lipid-induced transcriptomic changes in blood link to lipid metabolism and allergic response. | Dekkers KF et al. | — | 2023 | → |
| Lipolysis and gestational diabetes mellitus onset: a case-cohort genome-wide association study in Chinese. | Zhang M et al. | — | 2023 | → |
| LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes. | Alasiri A et al. | — | 2023 | → |
| Male-specific, replicable and functional roles of genetic variants and cerebral gray matter volumes in ADHD: a gene-wide association study across KTN1 and a region-wide functional validation across brain. | Luo X et al. | — | 2023 | → |
| meQTL mapping in the GENOA study reveals genetic determinants of DNA methylation in African Americans. | Shang L et al. | — | 2023 | → |
| Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci. | Pasanen A et al. | — | 2023 | → |
| Modification of TSH-related genetic effects by indicators of socioeconomic position. | Drogge SC et al. | — | 2023 | → |
| Multi-ethnic Imputation System (MI-System): A genotype imputation server for high-dimensional data. | Chattopadhyay A et al. | — | 2023 | → |
| Multiomics Analysis Provides Novel Pathways Related to Progression of Heart Failure. | Ouwerkerk W et al. | — | 2023 | → |
| Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy. | Brander G et al. | — | 2023 | → |
| Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. | Barry A et al. | — | 2023 | → |
| Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival. | Sun Z et al. | — | 2023 | → |
| Multi-scale systems genomics analysis predicts pathways, cell types, and drug targets involved in normative variation in peri-adolescent human cognition. | Pai S et al. | — | 2023 | → |
| On the origin and structure of haplotype blocks. | Shipilina D et al. | — | 2023 | → |
| Patterns of item nonresponse behaviour to survey questionnaires are systematic and associated with genetic loci. | Mignogna G et al. | — | 2023 | → |
| Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics. | Tafazoli A et al. | — | 2023 | → |
| Pleiotropic Association of CACNA1C Variants With Neuropsychiatric Disorders. | Wang Z et al. | — | 2023 | → |
| Polygenic adaptation leads to a higher reproductive fitness of native Tibetans at high altitude. | He Y et al. | — | 2023 | → |
| Polygenic liability, stressful life events and risk for secondary-treated depression in early life: a nationwide register-based case-cohort study. | Musliner KL et al. | — | 2023 | → |
| Polygenic risk alters the penetrance of monogenic kidney disease. | Khan A et al. | — | 2023 | → |
| Polygenic risk scores for schizophrenia are associated with oculomotor endophenotypes. | Coors A et al. | — | 2023 | → |
| Polygenic risk scores of lithium response and treatment resistance in major depressive disorder. | Xiong Y et al. | — | 2023 | → |
| Polygenic Susceptibility to Hypertension and Blood Pressure Control in Stroke Survivors. | Acosta JN et al. | — | 2023 | → |
| Polygenic Susceptibility to Hypertension and Cognitive Performance in Middle-aged Persons Without Stroke or Dementia. | Rivier CA et al. | — | 2023 | → |
| Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization. | Clavero E et al. | — | 2023 | → |
| Potentially functional genetic variants in RPS6KA4 and MAP2K5 in the MAPK signaling pathway predict HBV-related hepatocellular carcinoma survival. | Qiu M et al. | — | 2023 | → |
| Predictive network analysis identifies JMJD6 and other potential key drivers in Alzheimer's disease. | Merchant JP et al. | — | 2023 | → |
| Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index. | Hui D et al. | — | 2023 | → |
| Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. | Bjornsdottir G et al. | — | 2023 | → |
| Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking? | Graham CA et al. | — | 2023 | → |
| Relationship between 233 colorectal cancer risk loci and survival in 1926 patients with advanced disease. | Wills C et al. | — | 2023 | → |
| Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults. | Kafyra M et al. | — | 2023 | → |
| SIGNET: transcriptome-wide causal inference for gene regulatory networks. | Jiang Z et al. | — | 2023 | → |
| Sister haplotypes and recombination disequilibrium: a new approach to identify associations of haplotypes with complex diseases. | Liao SY et al. | — | 2023 | → |
| SNPtotree-Resolving the Phylogeny of SNPs on Non-Recombining DNA. | Köksal Z et al. | — | 2023 | → |
| The genetic etiology of periodic limb movement in sleep. | Edelson JL et al. | — | 2023 | → |
| The Genetic, Pharmacogenomic, and Immune Landscapes Associated with Protein Expression across Human Cancers. | Chen C et al. | — | 2023 | → |
| The Oregon ADHD-1000: A new longitudinal data resource enriched for clinical cases and multiple levels of analysis. | Nigg JT et al. | — | 2023 | → |
| The solution surface of the Li-Stephens haplotype copying model. | Jin Y et al. | — | 2023 | → |
| The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population. | Wedekind LE et al. | — | 2023 | → |
| Trans-ancestry meta-analysis of genome wide association studies of inhibitory control. | Arnatkeviciute A et al. | — | 2023 | → |
| Transpulmonary generation of cell-free hemoglobin contributes to vascular dysfunction in pulmonary arterial hypertension via dysregulated clearance mechanisms. | Meegan JE et al. | — | 2023 | → |
| Ultra-low-coverage genome-wide association study-insights into gestational age using 17,844 embryo samples with preimplantation genetic testing. | Li S et al. | — | 2023 | → |
| Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke. | Xie Y et al. | — | 2023 | → |
| Whole genomes from Angola and Mozambique inform about the origins and dispersals of major African migrations. | Tallman S et al. | — | 2023 | → |
| Youth Polygenic Scores, Youth ADHD Symptoms, and Parenting Dimensions: An Evocative Gene-Environment Correlation Study. | de la Paz L et al. | — | 2023 | → |
| Youth Team Sports Participation Associates With Reduced Dimensional Psychopathology Through Interaction With Biological Risk Factors. | Kunitoki K et al. | — | 2023 | → |
| Aberrant RNA Splicing Is a Primary Link between Genetic Variation and Pancreatic Cancer Risk. | Tian J et al. | — | 2022 | → |
| A comparative analysis of current phasing and imputation software. | De Marino A et al. | — | 2022 | → |
| A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population. | Lee J et al. | — | 2022 | → |
| Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes. | Chen G et al. | — | 2022 | → |
| Advancing Grain Legumes Domestication and Evolution Studies with Genomics. | Zhang H et al. | — | 2022 | → |
| A genetic correlation and bivariate genome-wide association study of grip strength and depression. | Zhang T et al. | — | 2022 | → |
| A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients. | Asiimwe IG et al. | — | 2022 | → |
| A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations. | Wang F et al. | — | 2022 | → |
| A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population. | White IR et al. | — | 2022 | → |
| A joint use of pooling and imputation for genotyping SNPs. | Clouard C et al. | — | 2022 | → |
| A locus conferring tolerance to Theileria infection in African cattle. | Wragg D et al. | — | 2022 | → |
| Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways. | Zandi PP et al. | — | 2022 | → |
| Analysis of GWAS-nominated loci for lung cancer and COPD revealed a new asthma locus. | Madore AM et al. | — | 2022 | → |
| Ancestry-dependent genetic structure of the Xq28 risk haplotype in the Mexican population and its association with childhood-onset systemic lupus erythematosus. | García-Ortiz H et al. | — | 2022 | → |
| Ancient Maltese genomes and the genetic geography of Neolithic Europe. | Ariano B et al. | — | 2022 | → |
| An empirical evaluation of genotype imputation of ancient DNA. | Ausmees K et al. | — | 2022 | → |
| An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function. | Cujba AM et al. | — | 2022 | → |
| An imputed whole-genome sequence-based GWAS approach pinpoints causal mutations for complex traits in a specific swine population. | Yan G et al. | — | 2022 | → |
| A novel longitudinal clustering approach to psychopathology across diagnostic entities in the hospital-based PsyCourse study. | Schulte EC et al. | — | 2022 | → |
| Antidepressant Treatment and Manic Switch in Bipolar I Disorder: A Clinical and Molecular Genetic Study. | Chen CK et al. | — | 2022 | → |
| A Pathway-Specific Polygenic Risk Score Is Associated with Tau Pathology and Cognitive Decline. | Sun Y et al. | — | 2022 | → |
| A Pipeline for Phasing and Genotype Imputation on Mixed Human Data (Parents-Offspring Trios and Unrelated Subjects) by Reviewing Current Methods and Software. | Baldrighi GN et al. | — | 2022 | → |
| A single-nucleotide-polymorphism in the 5'-flanking region of <i>MSX1</i> gene as a predictive marker candidate for platinum-based therapy of esophageal carcinoma. | Mori T et al. | — | 2022 | → |
| Assessment of genotyping array performance for genome-wide association studies and imputation in African cattle. | Riggio V et al. | — | 2022 | → |
| Association between Breast Cancer Polygenic Risk Score and Chemotherapy-Induced Febrile Neutropenia: Null Results. | Ong SS et al. | — | 2022 | → |
| Association between genetic and socioenvironmental risk for schizophrenia during upbringing in a UK longitudinal cohort. | Newbury JB et al. | — | 2022 | → |
| Association of Early Childhood Caries with Bitter Taste Receptors: A Meta-Analysis of Genome-Wide Association Studies and Transcriptome-Wide Association Study. | Orlova E et al. | — | 2022 | → |
| Association of polygenic risk scores, traumatic life events and coping strategies with war-related PTSD diagnosis and symptom severity in the South Eastern Europe (SEE)-PTSD cohort. | Weber H et al. | — | 2022 | → |
| Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis. | Scannell Bryan M et al. | — | 2022 | → |
| Associations between circulating proteins and risk of breast cancer by intrinsic subtypes: a Mendelian randomisation analysis. | Shu X et al. | — | 2022 | → |
| Associations between polygenic risk of coronary artery disease and type 2 diabetes, lifestyle, and cardiovascular mortality: A prospective UK Biobank study. | Yun JS et al. | — | 2022 | → |
| Associations of genetic liability for Alzheimer's disease with cognition and eye movements in a large, population-based cohort study. | Coors A et al. | — | 2022 | → |
| Associations of genetic risk, BMI trajectories, and the risk of non-small cell lung cancer: a population-based cohort study. | You D et al. | — | 2022 | → |
| A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change. | Zhang H et al. | — | 2022 | → |
| ATG16L1 is a Potential Prognostic Biomarker and Immune Signature for Osteosarcoma: A Study Based on Bulk RNA and Single-Cell RNA-Sequencing. | Qin Z et al. | — | 2022 | → |
| A two-stage genome-wide association study to identify novel genetic loci associated with acute radiotherapy toxicity in nasopharyngeal carcinoma. | Wang Y et al. | — | 2022 | → |
| Birth weight, adult weight, and cardiovascular biomarkers: Evidence from the Cardiovascular Young Finns Study. | Pehkonen J et al. | — | 2022 | → |
| Body Mass Index and Risk of Diabetic Nephropathy: A Mendelian Randomization Study. | Lu J et al. | — | 2022 | → |
| Calculating Polygenic Risk Scores (PRS) in UK Biobank: A Practical Guide for Epidemiologists. | Collister JA et al. | — | 2022 | → |
| Canary: an automated tool for the conversion of MaCH imputed dosage files to PLINK files. | Bennett AN et al. | — | 2022 | → |
| Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol. | Fontana V et al. | — | 2022 | → |
| Chronology of natural selection in Oceanian genomes. | Brucato N et al. | — | 2022 | → |
| Collective effects of human genomic variation on microbiome function. | New FN et al. | — | 2022 | → |
| Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease. | Cadby G et al. | — | 2022 | → |
| Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. | Fadista J et al. | — | 2022 | → |
| Considering strategies for SNP selection in genetic and polygenic risk scores. | St-Pierre J et al. | — | 2022 | → |
| Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk. | Yang W et al. | — | 2022 | → |
| Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk. | Kulminski AM et al. | — | 2022 | → |
| Development and validation of a polygenic hazard score to predict prognosis and adjuvant chemotherapy benefit in early-stage non-small cell lung cancer. | Li DH et al. | — | 2022 | → |
| Development of a polygenic risk score to improve detection of peripheral artery disease. | Wang F 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 | → |
| DNA methylation patterns reflect individual's lifestyle independent of obesity. | Klemp I et al. | — | 2022 | → |
| Does better education mitigate risky health behavior? A mendelian randomization study. | Viinikainen J et al. | — | 2022 | → |
| Does genetic predisposition modify the effect of lifestyle-related factors on DNA methylation? | Yu C et al. | — | 2022 | → |
| Donor and recipient polygenic risk scores influence the risk of post-transplant diabetes. | Shaked A et al. | — | 2022 | → |
| EagleImp: fast and accurate genome-wide phasing and imputation in a single tool. | Wienbrandt L et al. | — | 2022 | → |
| Effects of polygenic risk for major mental disorders and cross-disorder on cortical complexity. | Schmitt S et al. | — | 2022 | → |
| Ensemble machine learning identifies genetic loci associated with future worsening of disability in people with multiple sclerosis. | Fuh-Ngwa V et al. | — | 2022 | → |
| Epigenetic Regulation of <i>F2RL3</i> Associates With Myocardial Infarction and Platelet Function. | Corbin LJ et al. | — | 2022 | → |
| Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease. | Liu H et al. | — | 2022 | → |
| Epistatic interactions of NRG1 and ERBB4 on antipsychotic treatment response in first-episode schizophrenia patients. | Zhang Y et al. | — | 2022 | → |
| Evaluating the Effects of Diet-Gut Microbiota Interactions on Sleep Traits Using the UK Biobank Cohort. | Qi X et al. | — | 2022 | → |
| Evaluation of genetic variants in nucleosome remodeling and deacetylase (NuRD) complex subunits encoding genes and gastric cancer susceptibility. | Zhang Y et al. | — | 2022 | → |
| Exploring the Genetic Association between Obesity and Serum Lipid Levels Using Bivariate Methods. | Ke J et al. | — | 2022 | → |
| Expression Quantitative Trait Locus Study of Non-Syndromic Cleft Lip with or without Cleft Palate GWAS Variants in Lip Tissues. | Li X et al. | — | 2022 | → |
| Extended kinship analysis of historical remains using SNP capture. | Gorden EM et al. | — | 2022 | → |
| Fine Mapping of the <i>MAP2K5</i> Region Identified rs7175517 as a Causal Variant Related to BMI in China and the United Kingdom Populations. | Lu C et al. | — | 2022 | → |
| flopp: Extremely Fast Long-Read Polyploid Haplotype Phasing by Uniform Tree Partitioning. | Shaw J et al. | — | 2022 | → |
| Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study. | Wesolowska-Andersen A 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 | → |
| Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer. | Patel A et al. | — | 2022 | → |
| Gene Set Enrichment Analysis Detected Immune Cell-Related Pathways Associated with Primary Sclerosing Cholangitis. | Luo P et al. | — | 2022 | → |
| Genetically regulated gene expression and proteins revealed discordant effects. | Pott J et al. | — | 2022 | → |
| Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts. | Alotaibi RN et al. | — | 2022 | → |
| Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol. | Shi M et al. | — | 2022 | → |
| Genetic Architecture of Untargeted Lipidomics in Cardiometabolic-Disease Patients Combines Strong Polygenic Control and Pleiotropy. | Brial F et al. | — | 2022 | → |
| Genetic evidence for facial variation being a composite phenotype of cranial variation and facial soft tissue thickness. | Qian W et al. | — | 2022 | → |
| Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits. | Patel RA et al. | — | 2022 | → |
| Genetic Variants Associated with Neuropeptide Y Autoantibody Levels in Newly Diagnosed Individuals with Type 1 Diabetes. | Mansachs SJ et al. | — | 2022 | → |
| Genetic variants underlying differences in facial morphology in East Asian and European populations. | Zhang M et al. | — | 2022 | → |
| Genome Privacy and Trust. | Gürsoy G | — | 2022 | → |
| Genome-wide analyses identify novel risk loci for cluster headache in Han Chinese residing in Taiwan. | Chen SP et al. | — | 2022 | → |
| Genome-wide analysis identify novel germline genetic variations in <i>ADCY1</i> influencing platinum-based chemotherapy response in non-small cell lung cancer. | Mao C et al. | — | 2022 | → |
| Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci. | Chen H et al. | — | 2022 | → |
| Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population. | Ashouri S et al. | — | 2022 | → |
| Genome-Wide Association Study for eGFR in a Taiwanese Population. | Chen YC et al. | — | 2022 | → |
| Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of <i>CCR7</i> and <i>PKN2</i> in Calcium Homeostasis and Cardiac Rhythm Maintenance. | Fang C et al. | — | 2022 | → |
| Genome-wide association study for vascular aging highlights pathways shared with cardiovascular traits in Koreans. | Ahn J et al. | — | 2022 | → |
| Genome-Wide Association Study Identifies New Risk Loci for Progression of Schistosomiasis Among the Chinese Population. | Zhou M et al. | — | 2022 | → |
| Genome-wide association study in patients with posterior urethral valves. | van der Zanden LFM 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 of Campylobacter<i>-</i>Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response. | Munday RM et al. | — | 2022 | → |
| Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer. | Hikino K et al. | — | 2022 | → |
| Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte L et al. | — | 2022 | → |
| Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study. | Orsi L et al. | — | 2022 | → |
| Genome-wide association study of idiopathic hypersomnia in a Japanese population. | Tanida K et al. | — | 2022 | → |
| Genome-wide association study of leprosy in Malawi and Mali. | Gilchrist JJ et al. | — | 2022 | → |
| Genome-wide association study of occupational attainment as a proxy for cognitive reserve. | Ko H et al. | — | 2022 | → |
| Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis. | Chen Y et al. | — | 2022 | → |
| Genome-wide Interaction Study Implicates <i>VGLL2</i> and Alcohol Exposure and <i>PRL</i> and Smoking in Orofacial Cleft Risk. | Carlson JC et al. | — | 2022 | → |
| Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. | Scholz M et al. | — | 2022 | → |
| Genomic Signatures Reveal Breeding Effects of Lulai Pigs. | Cao R et al. | — | 2022 | → |
| Genotyping, the Usefulness of Imputation to Increase SNP Density, and Imputation Methods and Tools. | Phocas F | — | 2022 | → |
| GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels. | Gergei I et al. | — | 2022 | → |
| Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man. | Boussaty EC et al. | — | 2022 | → |
| Heritability Analyses Uncover Shared Genetic Effects of Lung Function and Change over Time. | Li D et al. | — | 2022 | → |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. | Byrska-Bishop M et al. | — | 2022 | → |
| Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota. | Moitinho-Silva L et al. | — | 2022 | → |
| Iam hiQ-a novel pair of accuracy indices for imputed genotypes. | Rosenberger A et al. | — | 2022 | → |
| Identification and Allele Combination Analysis of Rice Grain Shape-Related Genes by Genome-Wide Association Study. | Meng B et al. | — | 2022 | → |
| Identification and Validation of Candidate Genes from Genome-Wide Association Studies. | Albert E et al. | — | 2022 | → |
| Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. | Loh M et al. | — | 2022 | → |
| Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis. | Li J et al. | — | 2022 | → |
| Identification of Novel Metabolic Subtypes Using Multi-Trait Limited Mixed Regression in the Chinese Population. | Ding K et al. | — | 2022 | → |
| Incorporating local ancestry improves identification of ancestry-associated methylation signatures and meQTLs in African Americans. | Li B et al. | — | 2022 | → |
| Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans. | Lemmelä S et al. | — | 2022 | → |
| Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes. | Caron B et al. | — | 2022 | → |
| Interaction analysis between germline genetic variants and somatic mutations in head and neck cancer. | Feng G et al. | — | 2022 | → |
| Interaction of n-3 polyunsaturated fatty acids with host CD36 genetic variant for gut microbiome and blood lipids in human cohorts. | Miao Z et al. | — | 2022 | → |
| Investigating genetic causal relationships between blood pressure and anxiety, depressive symptoms, neuroticism and subjective well-being. | Cai L et al. | — | 2022 | → |
| Investigation of the genetic effect of 56 tobacco-smoking susceptibility genes on DNA methylation and RNA expression in human brain. | Yang Z et al. | — | 2022 | → |
| Leveraging Mann-Whitney U test on large-scale genetic variation data for analysing malaria genetic markers. | Tai KY et al. | — | 2022 | → |
| Limb development genes underlie variation in human fingerprint patterns. | Li J et al. | — | 2022 | → |
| Longitudinal Temperament Pathways to ADHD Between Childhood and Adolescence. | Martel MM et al. | — | 2022 | → |
| Long-Lived Individuals Show a Lower Burden of Variants Predisposing to Age-Related Diseases and a Higher Polygenic Longevity Score. | Torres GG et al. | — | 2022 | → |
| Long-range chromosomal interactions increase and mark repressed gene expression during adipogenesis. | Garske KM et al. | — | 2022 | → |
| Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts. | Andersen MK et al. | — | 2022 | → |
| <i>BIRC6</i> modifies risk of invasive bacterial infection in Kenyan children. | Gilchrist JJ et al. | — | 2022 | → |
| Maternal-fetal genetic interactions, imprinting, and risk of placental abruption. | Workalemahu T et al. | — | 2022 | → |
| Maternal pregnancy-related infections and autism spectrum disorder-the genetic perspective. | Nudel R et al. | — | 2022 | → |
| Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels. | Yu K et al. | — | 2022 | → |
| METRO: Multi-ancestry transcriptome-wide association studies for powerful gene-trait association detection. | Li Z et al. | — | 2022 | → |
| Mild-to-Moderate Kidney Dysfunction and Cardiovascular Disease: Observational and Mendelian Randomization Analyses. | Gaziano L et al. | — | 2022 | → |
| Mother's and children's ADHD genetic risk, household chaos and children's ADHD symptoms: A gene-environment correlation study. | Agnew-Blais JC et al. | — | 2022 | → |
| Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health. | Marabita F et al. | — | 2022 | → |
| Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. | Gilchrist JJ et al. | — | 2022 | → |
| NetTIME: a multitask and base-pair resolution framework for improved transcription factor binding site prediction. | Yi R et al. | — | 2022 | → |
| Novel Analysis Methods to Mine Immune-Mediated Phenotypes and Find Genetic Variation Within the Electronic Health Record (Roadmap for Phenotype to Genotype: Immunogenomics). | Krantz MS et al. | — | 2022 | → |
| Oxytocin receptor genotype moderates the association between maternal prenatal stress and infant early self-regulation. | Kajanoja J et al. | — | 2022 | → |
| Pancan-MNVQTLdb: systematic identification of multi-nucleotide variant quantitative trait loci in 33 cancer types. | Wang D et al. | — | 2022 | → |
| Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. | Ebler J et al. | — | 2022 | → |
| Peripheral lymphocyte signaling pathway deficiencies predict treatment response in first-onset drug-naïve schizophrenia. | Lago SG et al. | — | 2022 | → |
| Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. | Zhang J et al. | — | 2022 | → |
| Polygenic risk for type 2 diabetes, lifestyle, metabolic health, and cardiovascular disease: a prospective UK Biobank study. | Yun JS et al. | — | 2022 | → |
| Polygenic score for cigarette smoking is associated with ever electronic-cigarette use in a college-aged sample. | Cooke ME et al. | — | 2022 | → |
| Polympact: exploring functional relations among common human genetic variants. | Valentini S et al. | — | 2022 | → |
| Predicting Treatment Response in Schizophrenia With Magnetic Resonance Imaging and Polygenic Risk Score. | Wang M et al. | — | 2022 | → |
| Prenatal Exposure to Traffic-Related Air Pollution and the DNA Methylation in Cord Blood Cells: MOCEH Study. | Park J et al. | — | 2022 | → |
| Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples. | Biddanda A et al. | — | 2022 | → |
| Reference panel guided topological structure annotation of Hi-C data. | Zhang Y et al. | — | 2022 | → |
| Regulation of CIRP by genetic factors of SP1 related to cold sensitivity. | Kim SY et al. | — | 2022 | → |
| Risk score prediction model based on single nucleotide polymorphism for predicting malaria: a machine learning approach. | Tai KY et al. | — | 2022 | → |
| Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer. | Hoang T et al. | — | 2022 | → |
| Sex-different interrelationships of rs945270, cerebral gray matter volumes, and attention deficit hyperactivity disorder: a region-wide study across brain. | Luo X et al. | — | 2022 | → |
| Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type-dependent effects of disease-risk variants. | Schmiedel BJ et al. | — | 2022 | → |
| Skim-Based Genotyping by Sequencing Using a Double Haploid Population to Call SNPs, Infer Gene Conversions, and Improve Genome Assemblies. | Bayer PE | — | 2022 | → |
| Systematic analysis of the effects of genetic variants on chromatin accessibility to decipher functional variants in non-coding regions. | Wang D et al. | — | 2022 | → |
| The correlation between genetic factors and freezing of gait in patients with Parkinson's disease. | Radojević B et al. | — | 2022 | → |
| The female protective effect against autism spectrum disorder. | Wigdor EM et al. | — | 2022 | → |
| The genetic risk of gestational diabetes in South Asian women. | Lamri A et al. | — | 2022 | → |
| The regulatory landscape of multiple brain regions in outbred heterogeneous stock rats. | Munro D et al. | — | 2022 | → |
| The sequences of 150,119 genomes in the UK Biobank. | Halldorsson BV et al. | — | 2022 | → |
| Tissue-specific multi-omics analysis of atrial fibrillation. | Assum I et al. | — | 2022 | → |
| Uganda Genome Resource: A rich research database for genomic studies of communicable and non-communicable diseases in Africa. | Fatumo S et al. | — | 2022 | → |
| Utilization of Genotyping-by-Sequencing (GBS) for Rice Pre-Breeding and Improvement: A Review. | Reyes VP et al. | — | 2022 | → |
| Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. | Naslavsky MS et al. | — | 2022 | → |
| A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. | Jermusyk A et al. | — | 2021 | → |
| Abdominal and gluteofemoral fat depots show opposing associations with postprandial lipemia. | Christiansen MR et al. | — | 2021 | → |
| A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. | Coignard J et al. | — | 2021 | → |
| Accelerated deciphering of the genetic architecture of agricultural economic traits in pigs using a low-coverage whole-genome sequencing strategy. | Yang R et al. | — | 2021 | → |
| Accuracy of genotype imputation based on reference population size and marker density in Hanwoo cattle. | Lee D et al. | — | 2021 | → |
| A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. | Yu Y et al. | — | 2021 | → |
| A Continuous Statistical Phasing Framework for the Analysis of Forensic Mitochondrial DNA Mixtures. | Smart U et al. | — | 2021 | → |
| Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. | Scliar MO et al. | — | 2021 | → |
| A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes. | Ali MW et al. | — | 2021 | → |
| A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma. | Gamble LD et al. | — | 2021 | → |
| A genetic sum score of effect alleles associated with serum lipid concentrations interacts with educational attainment. | Emmel C et al. | — | 2021 | → |
| A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population. | Takahashi Y et al. | — | 2021 | → |
| A genome-wide association study of childhood adiposity and blood lipids. | O'Nunain K et al. | — | 2021 | → |
| A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese. | Huang Y et al. | — | 2021 | → |
| A genome-wide association study of the frailty index highlights brain pathways in ageing. | Atkins JL et al. | — | 2021 | → |
| A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion. | Zhu Z et al. | — | 2021 | → |
| A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. | Wills C et al. | — | 2021 | → |
| Age varying polygenic effects on alcohol use in African Americans and European Americans from adolescence to adulthood. | Elam KK et al. | — | 2021 | → |
| A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants. | McInerney TW et al. | — | 2021 | → |
| A Haptoglobin Exon Copy Number Variant Associates With HIV-Associated Neurocognitive Impairment in European and African-Descent Populations. | Bai H et al. | — | 2021 | → |
| A Human-Specific Schizophrenia Risk Tandem Repeat Affects Alternative Splicing of a Human-Unique Isoform AS3MTd2d3 and Mushroom Dendritic Spine Density. | Cai X et al. | — | 2021 | → |
| Alterations in nicotinic receptor alpha5 subunit gene differentially impact early and later stages of cocaine addiction: a translational study in transgenic rats and patients. | Forget B et al. | — | 2021 | → |
| A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations. | Yau MS et al. | — | 2021 | → |
| A more accurate method for colocalisation analysis allowing for multiple causal variants. | Wallace C | — | 2021 | → |
| A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. | Hardcastle AJ et al. | — | 2021 | → |
| A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. | López de Maturana E et al. | — | 2021 | → |
| Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21. | Chernus JM et al. | — | 2021 | → |
| Analysis of the Interaction between Polygenic Risk Score and Calorie Intake in Obesity in the Korean Population. | Lee WJ et al. | — | 2021 | → |
| An Evaluation of the Diagnostic Accuracy of a Panel of Variants in <i>DPYD</i> and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities. | Palles C et al. | — | 2021 | → |
| ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease. | Helkkula P et al. | — | 2021 | → |
| An in-depth analysis reveals two new genetic variants on 22q11.2 associated with vitiligo in the Chinese Han population. | Tang X et al. | — | 2021 | → |
| An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. | Cordell HJ et al. | — | 2021 | → |
| Apolipoprotein E (APOE) ε4 moderates the relationship between c-reactive protein, cognitive functioning, and white matter integrity. | Wooten T et al. | — | 2021 | → |
| Apolipoprotein E (<i>APOE</i>) ε4 Status Moderates the Relationship Between Close-Range Blast Exposure and Cognitive Functioning. | Wooten T et al. | — | 2021 | → |
| Assessment of Imputation Quality: Comparison of Phasing and Imputation Algorithms in Real Data. | Stahl K et al. | — | 2021 | → |
| Association between genes regulating neural pathways for quantitative traits of speech and language disorders. | Benchek P et al. | — | 2021 | → |
| Association between the Arylalkylamine N-Acetyltransferase (AANAT) Gene and Seasonality in Patients with Bipolar Disorder. | Yang SY et al. | — | 2021 | → |
| Association of <i>FOXO3</i> Blood DNA Methylation with Cancer Risk, Cancer Survival, and Mortality. | Yu C et al. | — | 2021 | → |
| Associations between <i>ALDH</i> Genetic Variants, Alcohol Consumption, and the Risk of Nasopharyngeal Carcinoma in an East Asian Population. | Liao WL et al. | — | 2021 | → |
| Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors. | Krebs MD et al. | — | 2021 | → |
| A systematic comparison of normalization methods for eQTL analysis. | Yang J et al. | — | 2021 | → |
| A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits. | Cai M et al. | — | 2021 | → |
| Birth weight and adult income: An examination of mediation through adult height and body mass. | Pehkonen J et al. | — | 2021 | → |
| Brain network dynamics during working memory are modulated by dopamine and diminished in schizophrenia. | Braun U et al. | — | 2021 | → |
| Brain-Specific Gene Expression and Quantitative Traits Association Analysis for Mild Cognitive Impairment. | Yuan SX et al. | — | 2021 | → |
| Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes. | Studd JB et al. | — | 2021 | → |
| CancerImmunityQTL: a database to systematically evaluate the impact of genetic variants on immune infiltration in human cancer. | Tian J et al. | — | 2021 | → |
| Cannabinoid Receptor 1 rs1049353 Variant, Childhood Abuse, and the Heterogeneity of PTSD Symptoms: Results From the National Health and Resilience in Veterans Study. | Korem N et al. | — | 2021 | → |
| Canonical TGF-β signaling regulates the relationship between prenatal maternal depression and amygdala development in early life. | Qiu A et al. | — | 2021 | → |
| Causal links between major depressive disorder and insomnia: A Mendelian randomisation study. | Cai L et al. | — | 2021 | → |
| Causal relationship between the timing of menarche and young adult body mass index with consideration to a trend of consistently decreasing age at menarche. | Kim H et al. | — | 2021 | → |
| Cell type-specific and cross-population polygenic risk score analyses of <i>MIR137</i> gene pathway in schizophrenia. | Yao Y et al. | — | 2021 | → |
| Change by challenge: A common genetic basis behind childhood cognitive development and cognitive training. | Sauce B et al. | — | 2021 | → |
| Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression. | Ashouri S et al. | — | 2021 | → |
| Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. | Dentro SC et al. | — | 2021 | → |
| Clinical and genetic differences between bipolar disorder type 1 and 2 in multiplex families. | Guzman-Parra J et al. | — | 2021 | → |
| Cohort profile: Epigenetics in Pregnancy (EPIPREG) - population-based sample of European and South Asian pregnant women with epigenome-wide DNA methylation (850k) in peripheral blood leukocytes. | Fragoso-Bargas N et al. | — | 2021 | → |
| Combined effects of genotype and childhood adversity shape variability of DNA methylation across age. | Czamara D et al. | — | 2021 | → |
| Common Susceptibility Loci for Male Breast Cancer. | Maguire S et al. | — | 2021 | → |
| Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. | Musfee FI et al. | — | 2021 | → |
| Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank. | Liu TY et al. | — | 2021 | → |
| Comprehensive analysis reveals distinct mutational signature and its mechanistic insights of alcohol consumption in human cancers. | Wei R et al. | — | 2021 | → |
| Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma. | Qin N et al. | — | 2021 | → |
| Compression for population genetic data through finite-state entropy. | Chen W et al. | — | 2021 | → |
| Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses. | Bing N et al. | — | 2021 | → |
| Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. | Graff RE et al. | — | 2021 | → |
| CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. | Johnson N et al. | — | 2021 | → |
| Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. | Boer CG et al. | — | 2021 | → |
| DeCompress: tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing. | Bhattacharya A et al. | — | 2021 | → |
| Deep generative models in DataSHIELD. | Lenz S et al. | — | 2021 | → |
| Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People. | Lo YH et al. | — | 2021 | → |
| Differences in the Platelet mRNA Landscape Portend Racial Disparities in Platelet Function and Suggest Novel Therapeutic Targets. | Garofano K et al. | — | 2021 | → |
| Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. | Graff M et al. | — | 2021 | → |
| Discovery of new genetic loci for male sexual orientation in Han population. | Hu SH et al. | — | 2021 | → |
| DNA methylation and breast cancer-associated variants. | Ho PJ et al. | — | 2021 | → |
| Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment. | Wang Z et al. | — | 2021 | → |
| Drinking and smoking polygenic risk is associated with childhood and early-adulthood psychiatric and behavioral traits independently of substance use and psychiatric genetic risk. | De Angelis F et al. | — | 2021 | → |
| Effects of Randomized Controlled Infancy-Onset Dietary Intervention on Leukocyte Telomere Length-The Special Turku Coronary Risk Factor Intervention Project (STRIP). | Pitkänen N et al. | — | 2021 | → |
| Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor. | Dowsett J et al. | — | 2021 | → |
| Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease. | Sun P et al. | — | 2021 | → |
| Epstein-Barr virus nuclear antigen 2 extensively rewires the human chromatin landscape at autoimmune risk loci. | Hong T et al. | — | 2021 | → |
| Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort. | Koomar T et al. | — | 2021 | → |
| Exploring the causal inference of shear stress associated DNA methylation in carotid plaque on cardiovascular risk. | Methorst R et al. | — | 2021 | → |
| Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. | Esoh KK et al. | — | 2021 | → |
| Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder. | Garrett ME et al. | — | 2021 | → |
| Generative network models of altered structural brain connectivity in schizophrenia. | Zhang X et al. | — | 2021 | → |
| Genetic and demographic predisposing factors associated with pediatric sleepwalking in the Philadelphia Neurodevelopmental Cohort. | Chiba Y et al. | — | 2021 | → |
| Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts. | McKenna BG et al. | — | 2021 | → |
| Genetic Determinants of Somatic Selection of Mutational Processes in 3,566 Human Cancers. | Guo J et al. | — | 2021 | → |
| Genetic differential susceptibility to the parent-child relationship quality and the life span development of compassion. | Dobewall H et al. | — | 2021 | → |
| Genetic Dissection of Temperament Personality Traits in Italian Isolates. | Concas MP et al. | — | 2021 | → |
| Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator. | Yamada M et al. | — | 2021 | → |
| Genetic Predictors of Severe Skin Toxicity in Patients with Stage III Colon Cancer Treated with Cetuximab: NCCTG N0147 (Alliance). | Labadie JD et al. | — | 2021 | → |
| Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke. | Leskelä J et al. | — | 2021 | → |
| Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. | Wei CY et al. | — | 2021 | → |
| Genetic variants in anti-Müllerian hormone-related genes and breast cancer risk: results from the AMBER consortium. | Nichols HB et al. | — | 2021 | → |
| Genetic variants in the Hedgehog signaling pathway genes are associated with gastric cancer risk in a Chinese Han population. | Zhang Y et al. | — | 2021 | → |
| Genetic Variation in <i>PADI6-PADI4</i> on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy. | Buono RJ et al. | — | 2021 | → |
| Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis. | Vandebergh M et al. | — | 2021 | → |
| Genome-wide analyses of smoking behaviors in schizophrenia: Findings from the Psychiatric Genomics Consortium. | Peterson RE et al. | — | 2021 | → |
| Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci. | Harshfield EL et al. | — | 2021 | → |
| Genome-wide association analysis of cognitive function in Danish long-lived individuals. | Nygaard M et al. | — | 2021 | → |
| Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity. | Deshmukh HA et al. | — | 2021 | → |
| Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration. | Bourgeois S et al. | — | 2021 | → |
| Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci. | Foss-Skiftesvik J et al. | — | 2021 | → |
| Genome-Wide Association Study Identified Novel Candidate Loci/Genes Affecting Lodging Resistance in Rice. | Meng B et al. | — | 2021 | → |
| Genome-wide association study identifies a role for the progesterone receptor in benign prostatic hyperplasia risk. | Li W et al. | — | 2021 | → |
| Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. | Simcoe M et al. | — | 2021 | → |
| Genome-wide association study of stage III/IV grade C periodontitis (former aggressive periodontitis) in a Spanish population. | de Coo A et al. | — | 2021 | → |
| Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. | Gialluisi A et al. | — | 2021 | → |
| Genome-wide association study reveals novel loci for adult type 1 diabetes in a 5-year nested case-control study. | Gao Y et al. | — | 2021 | → |
| Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank. | Wells HRR et al. | — | 2021 | → |
| Genome-Wide Linkage and Association Study of Childhood Gender Nonconformity in Males. | Sanders AR et al. | — | 2021 | → |
| Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. | Dawed AY et al. | — | 2021 | → |
| Genome-wide polygenic risk score for retinopathy of type 2 diabetes. | Forrest IS et al. | — | 2021 | → |
| Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk. | Perzel Mandell KA et al. | — | 2021 | → |
| Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. | Yang C et al. | — | 2021 | → |
| Genomic Prediction Using LD-Based Haplotypes Inferred From High-Density Chip and Imputed Sequence Variants in Chinese Simmental Beef Cattle. | Li H et al. | — | 2021 | → |
| Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. | Julián-Serrano S et al. | — | 2021 | → |
| Hippocampal transcriptome-wide association study and neurobiological pathway analysis for Alzheimer's disease. | Liu N et al. | — | 2021 | → |
| HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. | Konte B et al. | — | 2021 | → |
| Host Genome-Wide Association Study of Infant Susceptibility to <i>Shigella</i>-Associated Diarrhea. | Duchen D et al. | — | 2021 | → |
| How imputation can mitigate SNP ascertainment Bias. | Geibel J et al. | — | 2021 | → |
| Identification of a Locus Near <i>ULK1</i> Associated With Progression-Free Survival in Ovarian Cancer. | Quinn MCJ et al. | — | 2021 | → |
| Identification of a Risk Locus at 7p22.3 for Schizophrenia and Bipolar Disorder in East Asian Populations. | Li W et al. | — | 2021 | → |
| Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. | Yang Y et al. | — | 2021 | → |
| Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes. | Pan DZ et al. | — | 2021 | → |
| Identification of Three Novel Susceptibility Loci for Inflammatory Bowel Disease in Koreans in an Extended Genome-Wide Association Study. | Jung S et al. | — | 2021 | → |
| Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue. | Díez-Villanueva A et al. | — | 2021 | → |
| Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. | Laabs BH et al. | — | 2021 | → |
| <i>LRRK2</i> Gene Variants Associated With a Higher Risk for Alcohol Dependence in Multiethnic Populations. | Oliveira PRS et al. | — | 2021 | → |
| Impact of genotypic errors with equal and unequal family contribution on accuracy of genomic prediction in aquaculture using simulation. | Khalilisamani N et al. | — | 2021 | → |
| Impact of pre- and post-variant filtration strategies on imputation. | Charon C et al. | — | 2021 | → |
| Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds. | Jenkins CA et al. | — | 2021 | → |
| Increasing calling accuracy, coverage, and read-depth in sequence data by the use of haplotype blocks. | Pook T et al. | — | 2021 | → |
| Increasing the resolution and precision of psychiatric genome-wide association studies by re-imputing summary statistics using a large, diverse reference panel. | Chatzinakos C et al. | — | 2021 | → |
| Independent and interactive associations of season, dietary vitamin D, and vitamin D-related genetic variants with serum 25(OH)D in Korean adults aged 40 years or older. | Lee J et al. | — | 2021 | → |
| Inference of Ancestries and Heterozygosity Proportion and Genotype Imputation in West African Cattle Populations. | Gebrehiwot NZ et al. | — | 2021 | → |
| Inferred expression regulator activities suggest genes mediating cardiometabolic genetic signals. | Hoskins JW et al. | — | 2021 | → |
| Inferring recombination patterns in African populations. | van Eeden G et al. | — | 2021 | → |
| Inflammatory modulation of the associations between prenatal maternal depression and neonatal brain. | Wu Y et al. | — | 2021 | → |
| Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways. | Damena D et al. | — | 2021 | → |
| Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals. | Liu X et al. | — | 2021 | → |
| Integrating Genome and Methylome Data to Identify Candidate DNA Methylation Biomarkers for Pancreatic Cancer Risk. | Zhu J et al. | — | 2021 | → |
| Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes. | Chou YC et al. | — | 2021 | → |
| Integration of peripheral transcriptomics, genomics, and interactomics following trauma identifies causal genes for symptoms of post-traumatic stress and major depression. | Wuchty S et al. | — | 2021 | → |
| Interaction between <i>G</i><i>ALNT12</i> and <i>C1GALT1</i> Associates with Galactose-Deficient IgA1 and IgA Nephropathy. | Wang YN et al. | — | 2021 | → |
| Interaction of CSF α-synuclein and amyloid beta in cognition and cortical atrophy. | Lee YG et al. | — | 2021 | → |
| Interaction of developmental factors and ordinary stressful life events on brain structure in adults. | Ringwald KG et al. | — | 2021 | → |
| Interactions of genetic variants and prenatal stress in relation to the risk for recurrent respiratory infections in children. | Korhonen LS et al. | — | 2021 | → |
| Investigation of Causal Effect of Type 2 Diabetes Mellitus on Lung Cancer: A Mendelian Randomization Study. | Hong T et al. | — | 2021 | → |
| <i>TranSNPs</i>: A class of functional SNPs affecting mRNA translation potential revealed by fraction-based allelic imbalance. | Valentini S et al. | — | 2021 | → |
| <i>VTRNA2-1</i>: Genetic Variation, Heritable Methylation and Disease Association. | Dugué PA et al. | — | 2021 | → |
| JAMIR-eQTL: Japanese genome-wide identification of microRNA expression quantitative trait loci across dementia types. | Akiyama S et al. | — | 2021 | → |
| Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. | Sakurai-Yageta M et al. | — | 2021 | → |
| Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the <i>TRANK1</i> gene loci. | Ambati A et al. | — | 2021 | → |
| Large Multicohort Study Reveals a Prostate Cancer Susceptibility Allele at 5p15 Regulating <i>TERT via</i> Androgen Signaling-Orchestrated Chromatin Binding of E2F1 and MYC. | Dong X et al. | — | 2021 | → |
| Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions. | Xu H et al. | — | 2021 | → |
| <i>Cis-</i>regulatory mutations with driver hallmarks in major cancers. | Cheng Z et al. | — | 2021 | → |
| Mapping relationships between ADHD genetic liability, stressful life events, and ADHD symptoms in healthy adults. | Li T et al. | — | 2021 | → |
| Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. | Yin X et al. | — | 2021 | → |
| Metabolite Genome-Wide Association Study for Indoleamine 2,3-Dioxygenase Activity Associated with Chronic Kidney Disease. | Kim HR et al. | — | 2021 | → |
| Metabolomic architecture of obesity implicates metabolonic lactone sulfate in cardiometabolic disease. | Das SK et al. | — | 2021 | → |
| Microglial-expressed genetic risk variants, cognitive function and brain volume in patients with schizophrenia and healthy controls. | Corley E et al. | — | 2021 | → |
| MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. | Zhan J et al. | — | 2021 | → |
| Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in <i>MT-CYB, MT-ND4</i> Genes and Haplogroups. | Lo Faro V et al. | — | 2021 | → |
| MOSTWAS: Multi-Omic Strategies for Transcriptome-Wide Association Studies. | Bhattacharya A et al. | — | 2021 | → |
| Multi-environment gene interactions linked to the interplay between polysubstance dependence and suicidality. | Polimanti R et al. | — | 2021 | → |
| Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons. | Khoury S et al. | — | 2021 | → |
| Multimodally profiling memory T cells from a tuberculosis cohort identifies cell state associations with demographics, environment and disease. | Nathan A et al. | — | 2021 | → |
| Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage. | Page GP et al. | — | 2021 | → |
| Multisite schizophrenia classification by integrating structural magnetic resonance imaging data with polygenic risk score. | Hu K et al. | — | 2021 | → |
| Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis. | Li HJ et al. | — | 2021 | → |
| Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul. | Brucato N et al. | — | 2021 | → |
| Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT. | Dubé MP et al. | — | 2021 | → |
| Planning and Conducting a Pharmacogenetics Association Study. | Hertz DL et al. | — | 2021 | → |
| Plant-ImputeDB: an integrated multiple plant reference panel database for genotype imputation. | Gao Y et al. | — | 2021 | → |
| Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios. | Ray D et al. | — | 2021 | → |
| Polygenic Risk and the Course of Attention-Deficit/Hyperactivity Disorder From Childhood to Young Adulthood: Findings From a Nationally Representative Cohort. | Agnew-Blais JC et al. | — | 2021 | → |
| Polygenic risk scores across the extended psychosis spectrum. | Smigielski L et al. | — | 2021 | → |
| Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases. | Yu Z et al. | — | 2021 | → |
| Polygenic risk scoring to assess genetic overlap and protective factors influencing posttraumatic stress, depression, and chronic pain after motor vehicle collision trauma. | Lobo JJ et al. | — | 2021 | → |
| Prediction of Alzheimer's disease using multi-variants from a Chinese genome-wide association study. | Jia L et al. | — | 2021 | → |
| Prognostic value of polygenic risk scores for adults with psychosis. | Landi I et al. | — | 2021 | → |
| Programmed Death Ligand 2 Gene Polymorphisms Are Associated With Lung Adenocarcinoma Risk in Female Never-Smokers. | Liang SK et al. | — | 2021 | → |
| Proteins Associated with Risk of Kidney Function Decline in the General Population. | Grams ME et al. | — | 2021 | → |
| Protocol for a pharmacogenomic study on individualised antipsychotic drug treatment for patients with schizophrenia. | Su Y et al. | — | 2021 | → |
| Quantifying genetic heterogeneity between continental populations for human height and body mass index. | Guo J et al. | — | 2021 | → |
| Quantum computing at the frontiers of biological sciences. | Emani PS et al. | — | 2021 | → |
| Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482. | Skorodumova LO et al. | — | 2021 | → |
| Recipient APOL1 risk alleles associate with death-censored renal allograft survival and rejection episodes. | Zhang Z et al. | — | 2021 | → |
| RefRGim: an intelligent reference panel reconstruction method for genotype imputation with convolutional neural networks. | Shi S et al. | — | 2021 | → |
| R-locus for roaned coat is associated with a tandem duplication in an intronic region of USH2A in dogs and also contributes to Dalmatian spotting. | Kawakami T et al. | — | 2021 | → |
| RNA polymerase mapping in plants identifies intergenic regulatory elements enriched in causal variants. | Lozano R et al. | — | 2021 | → |
| Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. | Lagou V et al. | — | 2021 | → |
| Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study. | Pott J et al. | — | 2021 | → |
| Sex specific effect of gut microbiota on the risk of psychiatric disorders: A Mendelian randomisation study and PRS analysis using UK Biobank cohort. | Qi X et al. | — | 2021 | → |
| Sex-specific effects of polygenic risk for schizophrenia on lifespan cognitive functioning in healthy individuals. | Koch E et al. | — | 2021 | → |
| Statistical properties of sketching algorithms. | Ahfock DC et al. | — | 2021 | → |
| Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression. | Mo A et al. | — | 2021 | → |
| Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings. | Lybech LKM 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 | → |
| Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias. | Hikino K et al. | — | 2021 | → |
| Taste receptor polymorphisms and longevity: a systematic review and meta-analysis. | Di Bona D et al. | — | 2021 | → |
| Testing gene-environment interactions in the presence of confounders and mismeasured environmental exposures. | Cheng C et al. | — | 2021 | → |
| The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population. | Teng JL et al. | — | 2021 | → |
| The Babytwins Study Sweden (BATSS): A Multi-Method Infant Twin Study of Genetic and Environmental Factors Influencing Infant Brain and Behavioral Development. | Falck-Ytter T et al. | — | 2021 | → |
| The choices we make and the impacts they have: Machine learning and species delimitation in North American box turtles (Terrapene spp.). | Martin BT et al. | — | 2021 | → |
| The Effects of Genetic Background for Diurnal Preference on Sleep Development in Early Childhood. | Morales-Muñoz I et al. | — | 2021 | → |
| The Evolutionary Dynamics of Genetic Incompatibilities Introduced by Duplicated Genes in Arabidopsis thaliana. | Jiao WB et al. | — | 2021 | → |
| The genetic architecture of DNA replication timing in human pluripotent stem cells. | Ding Q et al. | — | 2021 | → |
| The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene. | Bagheri M et al. | — | 2021 | → |
| "The Heidelberg Five" personality dimensions: Genome-wide associations, polygenic risk for neuroticism, and psychopathology 20 years after assessment. | Heilbronner U et al. | — | 2021 | → |
| The impact of non-additive genetic associations on age-related complex diseases. | Guindo-Martínez M et al. | — | 2021 | → |
| The neurobiological basis of divergent thinking: Insight from gene co-expression network-based analysis. | Zhang S et al. | — | 2021 | → |
| The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. | Curtis SW et al. | — | 2021 | → |
| The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study. | Mhatre S et al. | — | 2021 | → |
| Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults. | Li B et al. | — | 2021 | → |
| Toward a fine-scale population health monitoring system. | Belbin GM et al. | — | 2021 | → |
| Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. | Conti DV et al. | — | 2021 | → |
| Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity. | Scott EN et al. | — | 2021 | → |
| Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations. | Degenhardt F et al. | — | 2021 | → |
| Type 2 Diabetes Is Causally Associated With Reduced Serum Osteocalcin: A Genomewide Association and Mendelian Randomization Study. | Zeng H et al. | — | 2021 | → |
| Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation. | Kim M et al. | — | 2021 | → |
| Unlocking big data doubled the accuracy in predicting the grain yield in hybrid wheat. | Zhao Y et al. | — | 2021 | → |
| Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease. | Koch S et al. | — | 2021 | → |
| Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort. | Markopoulou K et al. | — | 2021 | → |
| Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia. | Li Q et al. | — | 2021 | → |
| X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. | Asselta R et al. | — | 2021 | → |
| Adapting Genotyping-by-Sequencing and Variant Calling for Heterogeneous Stock Rats. | Gileta AF et al. | — | 2020 | → |
| A fully integrated machine learning scan of selection in the chimpanzee genome. | Nye J et al. | — | 2020 | → |
| A genetic variant controls interferon-β gene expression in human myeloid cells by preventing C/EBP-β binding on a conserved enhancer. | Assouvie A et al. | — | 2020 | → |
| A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos. | Feofanova EV et al. | — | 2020 | → |
| A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness. | Dauber A et al. | — | 2020 | → |
| A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. | Kojima K et al. | — | 2020 | → |
| Amerindian Ancestry Influences Genetic Susceptibility to Chronic Obstructive Pulmonary Disease. | Díaz-Peña R et al. | — | 2020 | → |
| A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus. | Rodriguez OL et al. | — | 2020 | → |
| Applications of genotyping-by-sequencing (GBS) in maize genetics and breeding. | Wang N et al. | — | 2020 | → |
| A Review of Integrative Imputation for Multi-Omics Datasets. | Song M et al. | — | 2020 | → |
| A shared genetic contribution to breast cancer and schizophrenia. | Lu D et al. | — | 2020 | → |
| Association of PARP1-specific polymorphisms and haplotypes with non-small cell lung cancer subtypes. | Jin J et al. | — | 2020 | → |
| Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. | Blue EE et al. | — | 2020 | → |
| Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk. | Zhao L et al. | — | 2020 | → |
| Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn's disease subjects. | Turpin W et al. | — | 2020 | → |
| Associations of novel variants in <i>PIK3C3</i>, <i>INSR</i> and <i>MAP3K4</i> of the ATM pathway genes with pancreatic cancer risk. | Zhao LL et al. | — | 2020 | → |
| A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences. | Svensson D et al. | — | 2020 | → |
| Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data. | de la Puente M et al. | — | 2020 | → |
| Case-Parent Trio Studies in Cleft Lip and Palate. | Khan MI et al. | — | 2020 | → |
| Clinical, regional, and genetic characteristics of Covid-19 patients from UK Biobank. | Kolin DA et al. | — | 2020 | → |
| Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. | Yonova-Doing E et al. | — | 2020 | → |
| Deconvolution of bulk blood eQTL effects into immune cell subpopulations. | Aguirre-Gamboa R et al. | — | 2020 | → |
| DNA methylation mediates the effect of cocaine use on HIV severity. | Shu C et al. | — | 2020 | → |
| Effect of <i>EGLN1</i> Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders. | Yasukochi Y et al. | — | 2020 | → |
| European polygenic risk score for prediction of breast cancer shows similar performance in Asian women. | Ho WK et al. | — | 2020 | → |
| Evaluating genotype imputation pipeline for ultra-low coverage ancient genomes. | Hui R et al. | — | 2020 | → |
| Expression of microRNAs in human platelet-poor plasma: analysis of the factors affecting their expression and association with proximal genetic variants. | Rodriguez-Rius A et al. | — | 2020 | → |
| Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort. | Dueker ND et al. | — | 2020 | → |
| GEN2VCF: a converter for human genome imputation output format to VCF format. | Shin DM et al. | — | 2020 | → |
| Gene-Based Association Analysis Suggests Association of <i>HTR2A</i> With Antidepressant Treatment Response in Depressed Patients. | Kao CF et al. | — | 2020 | → |
| Genetic and non-genetic factors associated with the phenotype of exceptional longevity & normal cognition. | Han B et al. | — | 2020 | → |
| Genetic Associations of Chronotype in the Finnish General Population. | Maukonen M et al. | — | 2020 | → |
| Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. | Steinthorsdottir V et al. | — | 2020 | → |
| Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D. | Viñuela A et al. | — | 2020 | → |
| Genetic variation implicates plasma angiopoietin-2 in the development of acute kidney injury sub-phenotypes. | Bhatraju PK et al. | — | 2020 | → |
| Genome-wide association analysis of psoriasis patients treated with anti-TNF drugs. | Ovejero-Benito MC et al. | — | 2020 | → |
| Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. | Rode M et al. | — | 2020 | → |
| Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study. | Cai L et al. | — | 2020 | → |
| Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. | Lin Y et al. | — | 2020 | → |
| Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies Suggestive Loci for Sodium Intake, Potassium Intake, and Their Ratio Measured from 24-Hour or Half-Day Urine Samples. | Kho M et al. | — | 2020 | → |
| Genome-wide associations of human gut microbiome variation and implications for causal inference analyses. | Hughes DA et al. | — | 2020 | → |
| Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk. | Yuan F et al. | — | 2020 | → |
| Genome-wide association study identifies new loci for albuminuria in the Japanese population. | Okuda H et al. | — | 2020 | → |
| Genome-wide association study identifies novel single nucleotide polymorphisms having age-specific effect on prostate-specific antigen levels. | Li W et al. | — | 2020 | → |
| Genome-wide Association Study of Creativity Reveals Genetic Overlap With Psychiatric Disorders, Risk Tolerance, and Risky Behaviors. | Li H et al. | — | 2020 | → |
| Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways. | Sherva R et al. | — | 2020 | → |
| Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population. | Gervais O et al. | — | 2020 | → |
| Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations. | Fonseca H et al. | — | 2020 | → |
| Genomics to accelerate genetic improvement in tilapia. | Yáñez JM et al. | — | 2020 | → |
| HisCoM-G×E: Hierarchical Structural Component Analysis of Gene-Based Gene-Environment Interactions. | Choi S et al. | — | 2020 | → |
| <i>CEACAM3</i> decreases asthma exacerbations and modulates respiratory syncytial virus latent infection in children. | Tsai CH et al. | — | 2020 | → |
| Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. | Sieh W et al. | — | 2020 | → |
| Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization. | Belkadi A et al. | — | 2020 | → |
| <i>KTN1</i> Variants Underlying Putamen Gray Matter Volumes and Parkinson's Disease. | Mao Q et al. | — | 2020 | → |
| Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: data-linkage study. | Kendall KM et al. | — | 2020 | → |
| Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores. | Folkersen L et al. | — | 2020 | → |
| imputeqc: an R package for assessing imputation quality of genotypes and optimizing imputation parameters. | Khvorykh GV et al. | — | 2020 | → |
| In-Depth Analysis of Genetic Variation Associated with Severe West Nile Viral Disease. | Cahill ME et al. | — | 2020 | → |
| Inference of Chromosome-Length Haplotypes Using Genomic Data of Three or a Few More Single Gametes. | Li R et al. | — | 2020 | → |
| Insertion variants missing in the human reference genome are widespread among human populations. | Lee YG et al. | — | 2020 | → |
| Integration of GWAS and eQTL Analysis to Identify Risk Loci and Susceptibility Genes for Gastric Cancer. | Ni J et al. | — | 2020 | → |
| Investigating the accuracy of imputing autosomal variants in Nellore cattle using the ARS-UCD1.2 assembly of the bovine genome. | Hermisdorff IDC et al. | — | 2020 | → |
| Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study. | Sugino S et al. | — | 2020 | → |
| Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma. | Lin SH et al. | — | 2020 | → |
| meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes. | Ciuculete DM et al. | — | 2020 | → |
| Meta-analysis of GWAS in canola blackleg (Leptosphaeria maculans) disease traits demonstrates increased power from imputed whole-genome sequence. | Fikere M et al. | — | 2020 | → |
| Multi-parent populations in crops: a toolbox integrating genomics and genetic mapping with breeding. | Scott MF et al. | — | 2020 | → |
| Muscle-Liver Trafficking of BCAA-Derived Nitrogen Underlies Obesity-Related Glycine Depletion. | White PJ et al. | — | 2020 | → |
| Novel Risk Loci in Tinnitus and Causal Inference With Neuropsychiatric Disorders Among Adults of European Ancestry. | Clifford RE et al. | — | 2020 | → |
| Pervasive chromosomal instability and karyotype order in tumour evolution. | Watkins TBK et al. | — | 2020 | → |
| Polygenic risk score for the prediction of breast cancer is related to lesser terminal duct lobular unit involution of the breast. | Bodelon C et al. | — | 2020 | → |
| Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses. | Kennedy RB et al. | — | 2020 | → |
| Polymorphisms in the Angiogenesis-Related Genes <i>EFNB2</i>, <i>MMP2</i> and <i>JAG1</i> Are Associated with Survival of Colorectal Cancer Patients. | Scherer D et al. | — | 2020 | → |
| Population-Specific Recombination Maps from Segments of Identity by Descent. | Zhou Y et al. | — | 2020 | → |
| Predictive network modeling in human induced pluripotent stem cells identifies key driver genes for insulin responsiveness. | Carcamo-Orive I et al. | — | 2020 | → |
| Prognosis prediction model for conversion from mild cognitive impairment to Alzheimer's disease created by integrative analysis of multi-omics data. | Shigemizu D et al. | — | 2020 | → |
| Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits. | Spear ML et al. | — | 2020 | → |
| Risk of pneumococcal bacteremia in Kenyan children with glucose-6-phosphate dehydrogenase deficiency. | Gilchrist JJ et al. | — | 2020 | → |
| Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations. | Quick C et al. | — | 2020 | → |
| Serotonin system gene variants and regional brain volume differences in pediatric OCD. | Sinopoli VM et al. | — | 2020 | → |
| Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. | Dong J et al. | — | 2020 | → |
| SNPs in lncRNA Regions and Breast Cancer Risk. | Suvanto M et al. | — | 2020 | → |
| Testing and controlling for horizontal pleiotropy with probabilistic Mendelian randomization in transcriptome-wide association studies. | Yuan Z et al. | — | 2020 | → |
| The CYB5R3<sup>c</sup> <sup>.350C>G</sup> and G6PD A alleles modify severity of anemia in malaria and sickle cell disease. | Gordeuk VR et al. | — | 2020 | → |
| The Future of Livestock Management: A Review of Real-Time Portable Sequencing Applied to Livestock. | Lamb HJ et al. | — | 2020 | → |
| The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder. | Li D et al. | — | 2020 | → |
| The Liability Threshold Model for Predicting the Risk of Cardiovascular Disease in Patients with Type 2 Diabetes: A Multi-Cohort Study of Korean Adults. | Hong EP et al. | — | 2020 | → |
| Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations. | Wang Y et al. | — | 2020 | → |
| Transcriptome-wide association study for persistent hepatitis B virus infection and related hepatocellular carcinoma. | Han J et al. | — | 2020 | → |
| Treatment- and population-specific genetic risk factors for anti-drug antibodies against interferon-beta: a GWAS. | Andlauer TFM et al. | — | 2020 | → |
| Urine 6-Bromotryptophan: Associations with Genetic Variants and Incident End-Stage Kidney Disease. | Sekula P et al. | — | 2020 | → |
| Validation of Susceptibility Loci for Vitiligo Identified by GWAS in the Chinese Han Population. | Cheng L et al. | — | 2020 | → |