A reference panel of 64,976 haplotypes for genotype imputation.
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Public
- Authors
- McCarthy, Shane; Das, Sayantan; Kretzschmar, Warren; Delaneau, Olivier; Wood, Andrew R; Teumer, Alexander; Kang, Hyun Min; Fuchsberger, Christian; Danecek, Petr; Sharp, Kevin; Luo, Yang; Sidore, Carlo; Kwong, Alan; Timpson, Nicholas; Koskinen, Seppo; Vrieze, Scott; Scott, Laura J; Zhang, He; Mahajan, Anubha; Veldink, Jan; Peters, Ulrike; Pato, Carlos; van Duijn, Cornelia M; Gillies, Christopher E; Gandin, Ilaria; Mezzavilla, Massimo; Gilly, Arthur; Cocca, Massimiliano; Traglia, Michela; Angius, Andrea; Barrett, Jeffrey C; Boomsma, Dorrett; Branham, Kari; Breen, Gerome; Brummett, Chad M; Busonero, Fabio; Campbell, Harry; Chan, Andrew; Chen, Sai; Chew, Emily; Collins, Francis S; Corbin, Laura J; Smith, George Davey; Dedoussis, George; Dorr, Marcus; Farmaki, Aliki-Eleni; Ferrucci, Luigi; Forer, Lukas; Fraser, Ross M; Gabriel, Stacey; Levy, Shawn; Groop, Leif; Harrison, Tabitha; Hattersley, Andrew; Holmen, Oddgeir L; Hveem, Kristian; Kretzler, Matthias; Lee, James C; McGue, Matt; Meitinger, Thomas; Melzer, David; Min, Josine L; Mohlke, Karen L; Vincent, John B; Nauck, Matthias; Nickerson, Deborah; Palotie, Aarno; Pato, Michele; Pirastu, Nicola; McInnis, Melvin; Richards, J Brent; Sala, Cinzia; Salomaa, Veikko; Schlessinger, David; Schoenherr, Sebastian; Slagboom, P Eline; Small, Kerrin; Spector, Timothy; Stambolian, Dwight; Tuke, Marcus; Tuomilehto, Jaakko; Van den Berg, Leonard H; Van Rheenen, Wouter; Volker, Uwe; Wijmenga, Cisca; Toniolo, Daniela; Zeggini, Eleftheria; Gasparini, Paolo; Sampson, Matthew G; Wilson, James F; Frayling, Timothy; de Bakker, Paul I W; Swertz, Morris A; McCarroll, Steven; Kooperberg, Charles; Dekker, Annelot; Altshuler, David; Willer, Cristen; Iacono, William; Ripatti, Samuli; Soranzo, Nicole; Walter, Klaudia; Swaroop, Anand; Cucca, Francesco; Anderson, Carl A; Myers, Richard M; Boehnke, Michael; McCarthy, Mark I; Durbin, Richard; Haplotype Reference Consortium
- Year
- 2016
- Journal
- Nature genetics
- PMID
- 27548312
- DOI
- 10.1038/ng.3643
- PMCID
- PMC5388176
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
Performance of imputation using different reference panel.The x-axis shows the non-reference allele frequency of the SNP being imputed on a log scale. The y-axis shows imputation accuracy measured by aggregate r2 when imputing SNP genotypes into 10 CEU samples. These results are based on using genotypes from sites on Illumina OMNI 1M SNP array was used as pseudo-GWAS data.
LLM interpretation
This line graph shows imputation accuracy (Aggregate $R^2$) plotted against the non-reference allele frequency (%) on a log scale for four different reference panels. Accuracy increases for all panels as allele frequency increases, with all four converging near an $R^2$ of 1.0 at frequencies above 10%. The HRC rephased panel (blue) consistently demonstrates the highest accuracy across the frequency spectrum, followed by HRC (grey), UK10K rephased (yellow), and 1000GP3 (orange).
Association signal Ξ±1-antitripsin phenotype at the SERPINA1 locus.Association test statistics on the βlog10 p-value scale (y-axis) are plotted for each SNP position (x-axis). Three different imputation panels were used : HapMap2 (left), 1000GP3 (middle), HRC release 1 (right). The SNP rs28929474 is shown as a purple and other SNPs are coloured according to the levels of LD (r2) with this SNP (see r2 legend in each subplot)
LLM interpretation
This figure consists of three Manhattan plots showing association test statistics ($-log_{10}$ p-value) for SNPs at the *SERPINA1* locus on chromosome 14, using three different imputation panels: HapMap2, 1000GP3, and HRC release 1. The x-axis represents the genomic position (Mb), and a blue line indicates the recombination rate (cM/Mb). SNPs are color-coded by their linkage disequilibrium ($r^2$) with SNP rs28929474, which shows the strongest association signal in the 1000GP3 and HRC panels.
| # | Section | Preview |
|---|---|---|
| 20 | Online methods β Details of imputation, association testing and replication in the InCHIANTI study | Imputation was performed remotely using the Michigan Imputation Server (see URLs). A total ofβ¦ |
| 21 | Online methods β Details of imputation, association testing and replication in the InCHIANTI study | A total of 93 circulating factors available in the InCHIANTI study were double inverse-normalised,β¦ |
| 22 | Online methods β Details of imputation, association testing and replication in the InCHIANTI study | We attempted to replicate the associations reported in Supplementary Table 3 in the SHIP andβ¦ |
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| Multi-ancestry whole genome sequencing analysis of lean body mass. | Zhang X et al. | β | 2025 | β |
| Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease. | Wang G et al. | β | 2025 | β |
| Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four abdominal hernia subtypes. | Chaar DL et al. | β | 2025 | β |
| Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer. | Simoes AR et al. | β | 2025 | β |
| Observer-rated environmental sensitivity and its characterization at behavioral, genetic, and physiological levels. | Weyn S et al. | β | 2025 | β |
| Pathway-Specific Polygenic Scores for Predicting Clinical Lithium Treatment Response in Patients With Bipolar Disorder. | Sharew NT et al. | β | 2025 | β |
| Pharmacogenomic and Pharmacomicrobiomic Aspects of Drugs of Abuse. | Borrego-Ruiz A et al. | β | 2025 | β |
| Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations. | Twesigomwe D et al. | β | 2025 | β |
| Polygenic risk-based prediction of heart failure in young patients with atrial fibrillation: an analysis from UK Biobank. | Ahn HJ et al. | β | 2025 | β |
| Polygenic risk discriminates Lewy body dementia from Alzheimer's disease. | McKeever A et al. | β | 2025 | β |
| Polygenic risks and cardiovascular treatment effects in severe mental illness. | Yao K et al. | β | 2025 | β |
| Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy. | Pyun JM et al. | β | 2025 | β |
| Polygenic risk scores for severe psychiatric disorders in bipolar disorders: associations with the clinical and dimensional expression, interactions with childhood maltreatment and mediation models. | Etain B et al. | β | 2025 | β |
| Population screening of adults identifies novel genetic variants associated with celiac disease. | Alam MS et al. | β | 2025 | β |
| Potential causal evidence for an ApoB-independent and HDL-related risk profile associated with coronary artery disease. | Ao L et al. | β | 2025 | β |
| Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders. | Cilleros-Portet A et al. | β | 2025 | β |
| ProHap enables human proteomic database generation accounting for population diversity. | VaΕ‘ΓΔek J et al. | β | 2025 | β |
| ProHap Explorer: Visualizing Haplotypes in Proteogenomic Datasets. | Vasicek J et al. | β | 2025 | β |
| Proteomic biomarkers of emphysema-predominant and non-emphysema-predominant chronic obstructive pulmonary disease. | Zhang YH et al. | β | 2025 | β |
| Proteomic Signatures for Risk Prediction of Atrial Fibrillation. | Park H et al. | β | 2025 | β |
| Proxy panels enable privacy-aware outsourcing of genotype imputation. | Zhi D et al. | β | 2025 | β |
| PTPN2 and Leukopenia in Individuals With Normal TPMT and NUDT15 Metabolizer Status Taking Azathioprine. | Daniel LL et al. | β | 2025 | β |
| RAB19, SERPINB9P1, and Pancreatitis in Patients Taking Azathioprine in Routine Clinical Practice: Genome and Transcriptome-Wide Association Studies. | Shah SC et al. | β | 2025 | β |
| Rare and low-frequency variants in families with otitis media. | Santos-Cortez RLP et al. | β | 2025 | β |
| Recommendations for responsible use of population descriptors in polygenic risk score development. | Smith JL et al. | β | 2025 | β |
| Regulatory polymorphisms of <i>MSH6</i>, <i>MSH2</i>, <i>FBXO11,</i> and <i>PPP1R21</i> genes affect survival of patients with immunotherapy-treated lung cancer. | Esposito M et al. | β | 2025 | β |
| Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location. | Wills C et al. | β | 2025 | β |
| Revealing the genetic architectures underlying organ-specific aging based on proteomic data. | Zhu RJ et al. | β | 2025 | β |
| Secondhand tobacco smoke and risk of atrial fibrillation: An observational epidemiologic and gene-environment interaction analysis. | Rhee TM et al. | β | 2025 | β |
| Sex differences in the genetic regulation of the human plasma proteome. | Koprulu M et al. | β | 2025 | β |
| Sex-specific association between schizophrenia polygenic risk and subclinical schizophrenia-related traits. | Mas-Bermejo P et al. | β | 2025 | β |
| Single-cell DNA methylome and 3D genome atlas of human subcutaneous adipose tissue. | Chen ZJ et al. | β | 2025 | β |
| snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses. | Macnair W et al. | β | 2025 | β |
| SURFBAT: a surrogate family based association test building on large imputation reference panels. | Herzig AF et al. | β | 2025 | β |
| The association between temperament and polygenic score for psychopathology from infancy to middle childhood. | Freitag E et al. | β | 2025 | β |
| The combined association between sleep duration and insomnia symptoms with dementia and cognitive deficits: a multivariable-adjusted and genetic liability study. | Stroo JF et al. | β | 2025 | β |
| The emergence of genetic variants linked to brain and cognitive traits in human evolution. | Libedinsky I et al. | β | 2025 | β |
| The Germline and Somatic Origins of Prostate Cancer Heterogeneity. | Yamaguchi TN et al. | β | 2025 | β |
| The impact of interferon-Ξ³ pathway on trained immunity induction by vaccination with Bacille Calmette-GuΓ©rin. | Isachesku E et al. | β | 2025 | β |
| The influence of fetal sex on maternal blood pressure in pregnancy. | Decina CS et al. | β | 2025 | β |
| The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis. | Bsteh G et al. | β | 2025 | β |
| TLR4 downregulation protects against cisplatin-induced ototoxicity in adult and pediatric patients with cancer. | Lee JJW et al. | β | 2025 | β |
| Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. | Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium. Electronic address: andrew.mcintosh@ed.ac.uk et al. | β | 2025 | β |
| Urbanization and genetic homogenization in the medieval Low Countries revealed through a ten-century paleogenomic study of the city of Sint-Truiden. | Beneker O et al. | β | 2025 | β |
| Variants in the Ξ²-globin locus are associated with pneumonia in African American children. | Halligan NLN et al. | β | 2025 | β |
| Vitamin D affects the risk of disease activity in multiple sclerosis. | Giordano A et al. | β | 2025 | β |
| WES-Based Screening of a Swedish Patient Series with Parkinson's Disease. | Kafantari E et al. | β | 2025 | β |
| Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract. | Chaar DL et al. | β | 2025 | β |
| Accounting for genetic effect heterogeneity in fine-mapping and improving power to detect gene-environment interactions with SharePro. | Zhang W et al. | β | 2024 | β |
| Accumbal ΞΌ-opioid receptors and salt taste-elicited hedonic responses in a rodent model of prenatal adversity, and their correlates using human functional genomics. | Bischoff AR et al. | β | 2024 | β |
| A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy. | Chong AY et al. | β | 2024 | β |
| A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden. | Taraszka K et al. | β | 2024 | β |
| A comprehensive genetic map of cytokine responses in Lyme borreliosis. | Botey-Bataller J et al. | β | 2024 | β |
| A comprehensive genetic variant reference for the Chinese population. | Jiang T et al. | β | 2024 | β |
| A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. | BhΓ©rer C et al. | β | 2024 | β |
| A Developmentally-Informative Genome-wide Association Study of Alcohol Use Frequency. | Thomas NS et al. | β | 2024 | β |
| A framework for conducting GWAS using repeated measures data with an application to childhood BMI. | Burrows K et al. | β | 2024 | β |
| A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. | de Vries PS et al. | β | 2024 | β |
| A genome-wide association analysis reveals new pathogenic pathways in gout. | Major TJ et al. | β | 2024 | β |
| A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease. | Riesmeijer SA et al. | β | 2024 | β |
| A genome-wide association meta-analysis of all-cause and vascular dementia. | Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium | β | 2024 | β |
| A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals. | Yang X et al. | β | 2024 | β |
| A genome-wide association study of hand eczema identifies locus 20q13.33 and reveals genetic overlap with atopic dermatitis. | Rosenberg FM et al. | β | 2024 | β |
| A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans. | Moksnes MR et al. | β | 2024 | β |
| A Genomics England haplotype reference panel and imputation of UK Biobank. | Shi S et al. | β | 2024 | β |
| A genotype imputation reference panel specific for native Southeast Asian populations. | Cengnata A et al. | β | 2024 | β |
| Age-Related Hearing Impairment: Genome and Blood Methylome Data Integration Reveals Candidate Epigenetic Biomarkers. | Yu J et al. | β | 2024 | β |
| AGIDB: a versatile database for genotype imputation and variant decoding across species. | Zhang K et al. | β | 2024 | β |
| A harmonized public resource of deeply sequenced diverse human genomes. | Koenig Z et al. | β | 2024 | β |
| A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease. | Norland K et al. | β | 2024 | β |
| A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment. | Gallego-Fabrega C et al. | β | 2024 | β |
| Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. | BoΓelmann CM et al. | β | 2024 | β |
| Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology. | Montalbano S et al. | β | 2024 | β |
| Analyzing longitudinal trait trajectories using GWAS identifies genetic variants for kidney function decline. | Wiegrebe S et al. | β | 2024 | β |
| An approach to identify gene-environment interactions and reveal new biological insight in complex traits. | Zhu X et al. | β | 2024 | β |
| Antidepressant use in relation to dementia risk, cognitive decline, and brain atrophy. | Vom Hofe I et al. | β | 2024 | β |
| A Polygenic Score Predicts Caries Experience in Elderly Swedish Adults. | Fries N et al. | β | 2024 | β |
| A resampling-based approach to share reference panels. | Cavinato T et al. | β | 2024 | β |
| Are some children genetically predisposed to poor sleep? A polygenic risk study in the general population. | Kocevska D et al. | β | 2024 | β |
| Assessing the validity of a self-reported clinical diagnosis of schizophrenia. | Woolway GE et al. | β | 2024 | β |
| Association between genetic risk and adherence to healthy lifestyle for developing age-related hearing loss. | Jung SH et al. | β | 2024 | β |
| Association between the Taq1A polymorphism and problematic media use in preadolescent children. | Emond JA et al. | β | 2024 | β |
| Association of a composite trait for anthropometrics, adiposity and energy expenditure with cardiometabolic diseases: An age-stratified cohort and genetic risk score analysis. | Meulmeester FL et al. | β | 2024 | β |
| Association of Occupational Dysfunction and Hospital Admissions With Different Polygenic Profiles in Bipolar Disorder. | Jonsson L et al. | β | 2024 | β |
| Association of Polygenic Risk Score With Lifetime Risk of Developing Multiple Sclerosis in a Population-Based Birth-Year Cohort. | Loonstra FC et al. | β | 2024 | β |
| Association of Poor Oral Health With Neuroimaging Markers of White Matter Injury in Middle-Aged Participants in the UK Biobank. | Rivier CA et al. | β | 2024 | β |
| Association of TMEM106B with Cortical <i>APOE</i> Gene Expression in Neurodegenerative Conditions. | Picard C et al. | β | 2024 | β |
| Associations between polygenic risk scores for cardiometabolic phenotypes and adolescent depression and body dissatisfaction. | Ekberg KM et al. | β | 2024 | β |
| A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile. | LindelΓΆf L et al. | β | 2024 | β |
| Biobank-wide association scan identifies risk factors for late-onset Alzheimer's disease and endophenotypes. | Yan D et al. | β | 2024 | β |
| Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics. | Yap CX et al. | β | 2024 | β |
| Capturing the fusion of two ancestries and kinship structures in Merovingian Flanders. | Sasso S et al. | β | 2024 | β |
| Causal associations between gut microbiota with intervertebral disk degeneration, low back pain, and sciatica: a Mendelian randomization study. | Fang M et al. | β | 2024 | β |
| CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities. | Srivastava K et al. | β | 2024 | β |
| Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements. | Sampatakakis SN et al. | β | 2024 | β |
| Changes in sleep patterns in people with a history of depression during the COVID-19 pandemic: a natural experiment. | Shin M et al. | β | 2024 | β |
| Characterization of the genetic determinants of context-specific DNA methylation in primary monocytes. | Gilchrist JJ et al. | β | 2024 | β |
| Clinical and genetic associations for night eating syndrome in a patient biobank. | Wilcox H et al. | β | 2024 | β |
| Clinical associations with a polygenic predisposition to benign lower white blood cell counts. | Mosley JD et al. | β | 2024 | β |
| Cognitive Polygenic Index is Associated with Occupational Complexity over and above Brain Morphometry. | Tsapanou A et al. | β | 2024 | β |
| Combined Effect of Air Pollution and Genetic Risk on Incident Cardiovascular Diseases. | Rhee TM et al. | β | 2024 | β |
| Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder. | Yao M et al. | β | 2024 | β |
| Comparison of subjective cognitive decline and polygenic risk score in the prediction of all-cause dementia, Alzheimer's disease and vascular dementia. | Trares K et al. | β | 2024 | β |
| Complex trait susceptibilities and population diversity in a sample of 4,145 Russians. | Usoltsev D et al. | β | 2024 | β |
| Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome. | Chen DZ et al. | β | 2024 | β |
| Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia. | Reus LM et al. | β | 2024 | β |
| Data Harmonization Guidelines to Combine Multi-platform Genomic Data from Admixed Populations and Boost Power in Genome-Wide Association Studies. | Croock D et al. | β | 2024 | β |
| Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing. | Liu X et al. | β | 2024 | β |
| Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations. | Ghatan S et al. | β | 2024 | β |
| Dementias Platform UK: Bringing genetics into life. | Leonenko G et al. | β | 2024 | β |
| Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. | Lancaster MC et al. | β | 2024 | β |
| Discrepancy Between Genetically Predicted and Observed BMI Predicts Incident Type 2 Diabetes. | Rhee TM et al. | β | 2024 | β |
| Disentangling differing relationships between internalizing disorders and alcohol use. | Brasher MS et al. | β | 2024 | β |
| Disentangling the heterogeneity of multiple sclerosis through identification of independent neuropathological dimensions. | de Boer A et al. | β | 2024 | β |
| DNA Methylation in the Anti-Mullerian Hormone Gene and the Risk of Disease Activity in Multiple Sclerosis. | Giordano A et al. | β | 2024 | β |
| Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. | Rahman MS et al. | β | 2024 | β |
| Effects and interaction of single nucleotide polymorphisms at the pharmacokinetic/pharmacodynamic site: insights from the Rotterdam study into metformin clinical response and dose titration. | Mohammadi Jouabadi S et al. | β | 2024 | β |
| Effects of endocrine disrupting chemicals and their interactions with genetic risk scores on cardiometabolic traits. | Lu X et al. | β | 2024 | β |
| Eight quick tips for including chromosome X in genome-wide association studies. | Bellavance J et al. | β | 2024 | β |
| Elucidating pathways to pediatric obesity: a study evaluating obesity polygenic risk scores related to appetitive traits in children. | Renier TJ et al. | β | 2024 | β |
| Elucidating the role of blood metabolites on pancreatic cancer risk using two-sample Mendelian randomization analysis. | Zhong H et al. | β | 2024 | β |
| Enhanced fracture risk prediction: a novel multi-trait genetic approach integrating polygenic scores of fracture-related traits. | Xiao X et al. | β | 2024 | β |
| Epigenetic link between Agent Orange exposure and type 2 diabetes in Korean veterans. | Seo S et al. | β | 2024 | β |
| Epigenome-wide association study on the plasma metabolome suggests self-regulation of the glycine and serine pathway through DNA methylation. | Wu J et al. | β | 2024 | β |
| eQTLs identify regulatory networks and drivers of variation in the individual response to sepsis. | Burnham KL et al. | β | 2024 | β |
| Evaluating the Joint Effects of Recurrent Copy Number Variants and Polygenic Scores on the Risk of Psychiatric Disorders in the iPSYCH2015 Case-Cohort Sample | Vaez M et al. | β | 2024 | β |
| EVALUATING THE RELATIONSHIPS BETWEEN GENETIC ANCESTRY AND THE CLINICAL PHENOME. | Piekos JA et al. | β | 2024 | β |
| Evening Chronotypes With Depression Report Poorer Outcomes of Selective Serotonin Reuptake Inhibitors: A Survey-Based Study of Self-Ratings. | Crouse JJ et al. | β | 2024 | β |
| Evidence for a causal link between intra-pancreatic fat deposition and pancreatic cancer: A prospective cohort and Mendelian randomization study. | Yamazaki H et al. | β | 2024 | β |
| Examining the role of common variants in rare neurodevelopmental conditions. | Huang QQ et al. | β | 2024 | β |
| Exploring causal effects of sarcopenia on risk and progression of Parkinson disease by Mendelian randomization. | Wang T et al. | β | 2024 | β |
| Expression profiling of cerebrospinal fluid identifies dysregulated antiviral mechanisms in multiple sclerosis. | Ban M et al. | β | 2024 | β |
| GDF15 linked to maternal risk of nausea and vomiting during pregnancy. | Fejzo M et al. | β | 2024 | β |
| Gene-environment interactions in the influence of maternal education on adolescent neurodevelopment using ABCD study. | Shi R et al. | β | 2024 | β |
| Generation Scotland: an update on Scotland's longitudinal family health study. | Milbourn H et al. | β | 2024 | β |
| Genetically predicted gut bacteria, circulating bacteria-associated metabolites and pancreatic ductal adenocarcinoma: a Mendelian randomisation study. | Daniel N et al. | β | 2024 | β |
| Genetic Analysis of Perceived Youthfulness Reveals Differences in How Men's and Women's Age Is Assessed. | Ingold N et al. | β | 2024 | β |
| Genetic and non-genetic predictors of risk for opioid dependence. | Na PJ et al. | β | 2024 | β |
| Genetic architecture of the structural connectome. | Wainberg M et al. | β | 2024 | β |
| Genetic Associations of Anhedonia: Insights into Overlap of Mental and Somatic Disorders. | Kasyanov E et al. | β | 2024 | β |
| Genetic association study of preterm birth and gestational age in a population-based case-control study in Peru. | Juvinao-Quintero DL et al. | β | 2024 | β |
| Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum. | Vilor-Tejedor N et al. | β | 2024 | β |
| Genetic control of DNA methylation is largely shared across European and East Asian populations. | Hatton AA et al. | β | 2024 | β |
| Genetic determinants of complement activation in the general population. | Noce D et al. | β | 2024 | β |
| Genetic determinants of IgG antibody response to COVID-19 vaccination. | Bian S et al. | β | 2024 | β |
| Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. | Suzuki K et al. | β | 2024 | β |
| Genetic history of Cambridgeshire before and after the Black Death. | Hui R et al. | β | 2024 | β |
| Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression. | Dybdahl Krebs M et al. | β | 2024 | β |
| Genetic Liability to Cardiovascular Disease, Physical Activity, and Mortality: Findings from the Finnish Twin Cohort. | Joensuu L et al. | β | 2024 | β |
| Genetic modifiers of body mass index in individuals with cystic fibrosis. | Ling H et al. | β | 2024 | β |
| Genetic predictors of blood pressure traits are associated with preeclampsia. | Jasper EA et al. | β | 2024 | β |
| Genetic Predisposition for White Matter Hyperintensities and Risk of Mild Cognitive Impairment and Alzheimer's Disease: Results from the HELIAD Study. | Sampatakakis SN et al. | β | 2024 | β |
| Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study. | Lopez-Medina AI et al. | β | 2024 | β |
| Genetic risk for Alzheimer's disease and adherence to the Mediterranean diet: results from the HELIAD study. | Mamalaki E et al. | β | 2024 | β |
| Genetic Risk For Depression and Quality of Life in Patients With Head and Neck Cancer. | Henry M et al. | β | 2024 | β |
| Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia. | Kim TO et al. | β | 2024 | β |
| Genetic variation near GRB10 associated with bone growth and osteosarcoma risk in canine and human populations. | Lucas SE et al. | β | 2024 | β |
| Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts. | Kals M et al. | β | 2024 | β |
| Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. | SolΓ©-Navais P et al. | β | 2024 | β |
| Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits. | Verhoef E et al. | β | 2024 | β |
| Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. | Keaton JM et al. | β | 2024 | β |
| Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. | Nievergelt CM et al. | β | 2024 | β |
| Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries. | Gorman BR et al. | β | 2024 | β |
| Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for BehΓ§et's disease and HLA-B*46:01 for its intestinal involvement. | Jung ES et al. | β | 2024 | β |
| Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study. | Hall M et al. | β | 2024 | β |
| Genome-wide association study identifies high-impact susceptibility loci for HCC in North America. | Hassan MM et al. | β | 2024 | β |
| Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever. | Kotliar D et al. | β | 2024 | β |
| Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration. | Ahmad S et al. | β | 2024 | β |
| Genome-wide association study of hospitalized patients and acute kidney injury. | Siew ED et al. | β | 2024 | β |
| Genome-Wide Association Study of Obsessive-Compulsive Symptoms including 33,943 individuals from the general population. | Strom NI et al. | β | 2024 | β |
| Genome-wide association study of preserved ratio impaired spirometry (PRISm). | Higbee DH et al. | β | 2024 | β |
| Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. | Tsetsos F et al. | β | 2024 | β |
| Genome-Wide Gene-Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk. | Stern MC et al. | β | 2024 | β |
| Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125β393 Participants. | Young WJ et al. | β | 2024 | β |
| Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer. | Papadimitriou N et al. | β | 2024 | β |
| Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction. | Braun A et al. | β | 2024 | β |
| Genome-wide polygenic risk score for rheumatoid arthritis prediction in postmenopausal women. | Xu Y et al. | β | 2024 | β |
| Genome-wide study identifies novel genes associated with bone toxicities in children with acute lymphoblastic leukaemia. | Zhu Q et al. | β | 2024 | β |
| Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas. | Hughes O et al. | β | 2024 | β |
| Genotype imputation in F2 crosses of inbred lines. | Pierotti S et al. | β | 2024 | β |
| Genotype imputation in human genomic studies. | Berdnikova AA et al. | β | 2024 | β |
| Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology. | Naito T et al. | β | 2024 | β |
| Germline genetic regulation of the colorectal tumor immune microenvironment. | Schmit SL et al. | β | 2024 | β |
| Gliovascular transcriptional perturbations in Alzheimer's disease reveal molecular mechanisms of blood brain barrier dysfunction. | Δ°Ε Γ et al. | β | 2024 | β |
| GWAS and polygenic risk score of severe COVID-19 in Eastern Europe. | Kovalenko E et al. | β | 2024 | β |
| GWAS shows the genetics behind cell-free DNA and highlights the importance of p.Arg206Cys in DNASE1L3 for non-invasive testing. | Linthorst J et al. | β | 2024 | β |
| Heterogeneity in the longitudinal courses of global functioning in children at familial risk of major psychiatric disorders: Association with trauma and familial characteristics. | Bureau A et al. | β | 2024 | β |
| Host genetic regulation of human gut microbial structural variation. | Zhernakova DV et al. | β | 2024 | β |
| How local reference panels improve imputation in French populations. | Herzig AF et al. | β | 2024 | β |
| Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. | Esposito M et al. | β | 2024 | β |
| Identification of proteins associated with type 2 diabetes risk in diverse racial and ethnic populations. | Liu S et al. | β | 2024 | β |
| Impact of genetic, sociodemographic, and clinical features on antidepressant treatment trajectories in the perinatal period. | Liu X et al. | β | 2024 | β |
| Impact of hyperuricemia on CKD risk beyond genetic predisposition in a population-based cohort study. | Kim Y et al. | β | 2024 | β |
| Imputation accuracy across global human populations. | Cahoon JL et al. | β | 2024 | β |
| Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers. | Forer L et al. | β | 2024 | β |
| Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction. | Zhuang Y et al. | β | 2024 | β |
| Individualized Dose-Response to Statins Associated with Cardiovascular Disease Outcomes. | Aggarwal SK et al. | β | 2024 | β |
| Insights into the multifaceted role of interleukin-37 on human immune cell regulation. | Teufel LU et al. | β | 2024 | β |
| Integration of estimated regional gene expression with neuroimaging and clinical phenotypes at biobank scale. | Hoang N et al. | β | 2024 | β |
| Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction. | Jung H et al. | β | 2024 | β |
| Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions. | Dareng EO et al. | β | 2024 | β |
| Investigating grey matter volumetric trajectories through the lifespan at the individual level. | Shi R et al. | β | 2024 | β |
| Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. | Wigdor EM et al. | β | 2024 | β |
| Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups. | Jeon S et al. | β | 2024 | β |
| Legal aspects of privacy-enhancing technologies in genome-wide association studies and their impact on performance and feasibility. | Brauneck A et al. | β | 2024 | β |
| Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries. | Zheng Z et al. | β | 2024 | β |
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| Minor Genetic Overlap Among Rheumatoid Arthritis, Myocardial Infarction, and Myocardial Infarction Risk Determinants. | Sysojev AΓ et al. | β | 2024 | β |
| Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk. | Gorman BR et al. | β | 2024 | β |
| Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk. | Carreras-Torres R et al. | β | 2024 | β |
| Multi-omics analysis of innate and adaptive responses to BCG vaccination reveals epigenetic cell states that predict trained immunity. | Moorlag SJCFM et al. | β | 2024 | β |
| Multi-omics and single cell characterization of cancer immunosenescence landscape. | Wei Q et al. | β | 2024 | β |
| Multi-polygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives. | Shi Y et al. | β | 2024 | β |
| NCAD v1.0: a database for non-coding variant annotation and interpretation. | Feng X et al. | β | 2024 | β |
| Network propagation for GWAS analysis: a practical guide to leveraging molecular networks for disease gene discovery. | VisonΓ G et al. | β | 2024 | β |
| Nightmares share genetic risk factors with sleep and psychiatric traits. | Ollila HM et al. | β | 2024 | β |
| Novel Polygenic Risk Score and Established Clinical Risk Factors for Risk Estimation of Aortic Stenosis. | Small AM et al. | β | 2024 | β |
| Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number. | Koller A et al. | β | 2024 | β |
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| Patterns of stressful life events and polygenic scores for five mental disorders and neuroticism among adults with depression. | Crouse JJ et al. | β | 2024 | β |
| Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration. | Kresge HA et al. | β | 2024 | β |
| Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases. | OrtΓn Vela S et al. | β | 2024 | β |
| Phenotypic Associations With the HMOX1 GT(n) Repeat in European Populations. | Hamilton F et al. | β | 2024 | β |
| Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation. | Burt CH | β | 2024 | β |
| Polygenic Interactions With Environmental Exposures in Blood Pressure Regulation: The HUNT Study. | Γvretveit K et al. | β | 2024 | β |
| Polygenic Risk Associations with Clinical Characteristics and Recurrence of Dupuytren Disease. | Riesmeijer SA et al. | β | 2024 | β |
| Polygenic risk for depression and anterior and posterior hippocampal volume in children and adolescents. | Hurtado H et al. | β | 2024 | β |
| Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting. | Samani NJ et al. | β | 2024 | β |
| Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. | Lee YC et al. | β | 2024 | β |
| Polygenic Risk Scores and Hearing Loss Phenotypes in Children. | Wang J et al. | β | 2024 | β |
| Polygenic Risk Scores and Twin Concordance for Schizophrenia and Bipolar Disorder. | Song J et al. | β | 2024 | β |
| Population-specific putative causal variants shape quantitative traits. | Koyama S et al. | β | 2024 | β |
| Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population. | Flanagan J et al. | β | 2024 | β |
| Predicting ADHD in alcohol dependence using polygenic risk scores for ADHD. | Patel KHS et al. | β | 2024 | β |
| Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation. | Carey CE et al. | β | 2024 | β |
| Probabilistic inference of epigenetic age acceleration from cellular dynamics. | Dabrowski JK et al. | β | 2024 | β |
| Proteome-wide association study and functional validation identify novel protein markers for pancreatic ductal adenocarcinoma. | Zhu J et al. | β | 2024 | β |
| Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores. | Faouzi J et al. | β | 2024 | β |
| Psychosocial moderators of polygenic risk scores of inflammatory biomarkers in relation to GrimAge. | Tamman AJF et al. | β | 2024 | β |
| Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes. | Huerta-Chagoya A et al. | β | 2024 | β |
| Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome. | Ross JP et al. | β | 2024 | β |
| Region-Based Analyses of Existing Genome-Wide Association Studies Identifies Novel Potential Genetic Susceptibility Regions for Glioma. | Alpen K et al. | β | 2024 | β |
| Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. | Nicoletti P et al. | β | 2024 | β |
| Regulome-wide association study identifies genetically driven accessible regions associated with pancreatic cancer risk. | Liu S et al. | β | 2024 | β |
| Robust analysis of allele-specific copy number alterations from scRNA-seq data with XClone. | Huang R et al. | β | 2024 | β |
| SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations. | Yang MY et al. | β | 2024 | β |
| Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis. | Pott J et al. | β | 2024 | β |
| Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism. | Liley J et al. | β | 2024 | β |
| Shared genetic architecture and causality between autism spectrum disorder and irritable bowel syndrome, multisite pain, and fatigue. | Li Y et al. | β | 2024 | β |
| Single nucleus RNA-sequencing integrated into risk variant colocalization discovers 17 cell-type-specific abdominal obesity genes for metabolic dysfunction-associated steatotic liver disease. | Lee SHT et al. | β | 2024 | β |
| Sleep Genetics and Cognitive Changes over Time: The Moderating Effect of Age and the Role of Brain. | Tsapanou A et al. | β | 2024 | β |
| Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. | Vanneste M et al. | β | 2024 | β |
| Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank. | Hillary RF et al. | β | 2024 | β |
| The association between body mass index and metabolite response to a liquid mixed meal challenge: a Mendelian randomization study. | Hughes DA et al. | β | 2024 | β |
| The Born in Guangzhou Cohort Study enables generational genetic discoveries. | Huang S et al. | β | 2024 | β |
| The contribution of attention-deficit/hyperactivity disorder polygenic load to metabolic and cardiovascular health outcomes: a large-scale population and sibling study. | Du Rietz E et al. | β | 2024 | β |
| The DLEU2-miR-15a-16-1 Cluster Is a Determinant of Bone Microarchitecture and Strength in Postmenopausal Women and Mice. | Reppe S et al. | β | 2024 | β |
| The effect of leptin on trained innate immunity and on systemic inflammation in subjects with obesity. | Flores Gomez D et al. | β | 2024 | β |
| The Effect of Thiazide Diuretics on Urinary Prostaglandin E2 Excretion and Serum Sodium in the General Population. | Geurts F et al. | β | 2024 | β |
| The genetic architecture of dog ownership: large-scale genome-wide association study in 97,552 European-ancestry individuals. | Gong T et al. | β | 2024 | β |
| The genetics and epidemiology of N- and O-immunoglobulin A glycomics. | Visconti A et al. | β | 2024 | β |
| The genomic portrait of the Picene culture provides new insights into the Italic Iron Age and the legacy of the Roman Empire in Central Italy. | Ravasini F et al. | β | 2024 | β |
| The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies. | Austin-Zimmerman I et al. | β | 2024 | β |
| 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. | β | 2024 | β |
| Towards cascading genetic risk in Alzheimer's disease. | Altmann A et al. | β | 2024 | β |
| Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes. | Bradfield JP et al. | β | 2024 | β |
| Transcriptomic Insights into the Atrial Fibrillation Susceptibility Locus near the <i>MYOZ1</i> and <i>SYNPO2L</i> Genes. | Wass SY et al. | β | 2024 | β |
| Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches. | Arni AM et al. | β | 2024 | β |
| Undetected Association Between Fatty Acids and Dementia with Lewy Bodies: A Bidirectional Two-Sample Mendelian Randomization Study. | Zhai W et al. | β | 2024 | β |
| Unravelling the complex causal effects of substance use behaviours on common diseases. | Xue A et al. | β | 2024 | β |
| Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease. | Raghavan A et al. | β | 2024 | β |
| VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome. | Wang Z et al. | β | 2024 | β |
| Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study. | Liu Y et al. | β | 2024 | β |
| Variant level heritability estimates of type 2 diabetes in African Americans. | Armstrong ND et al. | β | 2024 | β |
| Variation in the mu-opioid receptor gene (OPRM1) moderates the influence of maternal sensitivity on child attachment. | Tchalova K et al. | β | 2024 | β |
| Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression. | Tian R et al. | β | 2024 | β |
| Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. | Huffman JE et al. | β | 2024 | β |
| Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. | Kwong A et al. | β | 2024 | β |
| ZMIX: estimating ancestry proportions using GWAS association Z-scores. | Dennis T et al. | β | 2024 | β |
| Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks. | Appadurai V et al. | β | 2023 | β |
| Accurate haplotype construction and detection of selection signatures enabled by high quality pig genome sequences. | Tong X et al. | β | 2023 | β |
| Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank. | Hofmeister RJ et al. | β | 2023 | β |
| A critical role of brain network architecture in a continuum model of autism spectrum disorders spanning from healthy individuals with genetic liability to individuals with ASD. | Khundrakpam B et al. | β | 2023 | β |
| Adherence to the EAT-Lancet diet, genetic susceptibility, and risk of type 2 diabetes in Swedish adults. | Zhang S et al. | β | 2023 | β |
| A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population. | Mauleekoonphairoj J et al. | β | 2023 | β |
| A genome-wide association study of frailty identifies significant genetic correlation with neuropsychiatric, cardiovascular, and inflammation pathways. | Ye Y et al. | β | 2023 | β |
| A genomic data archive from the Network for Pancreatic Organ donors with Diabetes. | Perry DJ et al. | β | 2023 | β |
| A high-resolution haplotype-resolved Reference panel constructed from the China Kadoorie Biobank Study. | Yu C et al. | β | 2023 | β |
| A Mendelian Randomization Analysis of 55 Genetically Predicted Metabolic Traits with Breast Cancer Survival Outcomes in the Pathways Study. | Fiorica PN et al. | β | 2023 | β |
| A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifies <i>ANXA1</i> as a susceptibility locus for persistent wheezing. | Granell R et al. | β | 2023 | β |
| A metagenome-wide association study of HIV disease progression in HIV controllers. | Real LM et al. | β | 2023 | β |
| A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. | Patel AP et al. | β | 2023 | β |
| A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia. | Jiang C et al. | β | 2023 | β |
| An adult-based genetic risk score for liver fat associates with liver and plasma lipid traits in children and adolescents. | Huang Y et al. | β | 2023 | β |
| Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally. | D'Sa K et al. | β | 2023 | β |
| [Anhedonia in mood disorders and somatic diseases: results of exploratory Mendelian randomization analysis]. | Kasyanov ED et al. | β | 2023 | β |
| Animal-SNPAtlas: a comprehensive SNP database for multiple animals. | Gao Y et al. | β | 2023 | β |
| A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk. | Dicanio M et al. | β | 2023 | β |
| Apolipoprotein-CIII <i>O</i>-Glycosylation, a Link between <i>GALNT2</i> and Plasma Lipids. | Naber A et al. | β | 2023 | β |
| A polygenic and family risk score are both independently associated with risk of type 2 diabetes in a population-based study. | Duschek E et al. | β | 2023 | β |
| A Polygenic Risk Score for Predicting Racial and Genetic Susceptibility to Prurigo Nodularis. | Vasavda C et al. | β | 2023 | β |
| A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. | Aranda-GuillΓ©n M et al. | β | 2023 | β |
| A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer. | Cannon-Albright LA et al. | β | 2023 | β |
| A Rare Variant in <i>MDH2</i> (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree. | Cannon-Albright LA et al. | β | 2023 | β |
| ARFID Genes and Environment (ARFID-GEN): study protocol. | Bulik CM et al. | β | 2023 | β |
| A single-cell view on host immune transcriptional response to inΒ vivo BCG-induced trained immunity. | Li W et al. | β | 2023 | β |
| Assessing the interaction effects of brain structure longitudinal changes and life environmental factors on depression and anxiety. | Yang X et al. | β | 2023 | β |
| Assessing transcriptomic reidentification risks using discriminative sequence models. | Sadhuka S et al. | β | 2023 | β |
| Association between breast cancer and thyroid cancer risk: a two-sample Mendelian randomization study. | Tan H et al. | β | 2023 | β |
| Association between <i>APOL1</i> risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study. | Jiang L et al. | β | 2023 | β |
| Association between polygenic risk for Alzheimer's disease and brain structure in children and adults. | He XY et al. | β | 2023 | β |
| Association between urinary iodine excretion, genetic disposition and fluid intelligence in children, adolescents and young adults: the DONALD study. | Schulz CA et al. | β | 2023 | β |
| Association of Cognitive Polygenic Index and Cognitive Performance with Age in Cognitively Healthy Adults. | Tsapanou A et al. | β | 2023 | β |
| Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children. | Wang J et al. | β | 2023 | β |
| Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder. | Amare AT et al. | β | 2023 | β |
| Associations between genetically predicted levels of blood metabolites and pancreatic cancer risk. | Zhong H et al. | β | 2023 | β |
| Associations between Host Genetic Variants and Subgingival Microbiota in Patients with the Metabolic Syndrome. | Nibali L et al. | β | 2023 | β |
| Associations of minor histocompatibility antigens with outcomes following allogeneic hematopoietic cell transplantation. | Jadi O et al. | β | 2023 | β |
| Associations of VEGF-A-Related Variants with Adolescent Cardiometabolic and Dietary Parameters. | Kafyra M et al. | β | 2023 | β |
| Atopic Polygenic Risk Score Is Associated with Paradoxical Eczema Developing in Patients with Psoriasis Treated with Biologics. | Al-Janabi A et al. | β | 2023 | β |
| A Type 1 Diabetes Polygenic Score Is Not Associated With Prevalent Type 2 Diabetes in Large Population Studies. | Srinivasan S et al. | β | 2023 | β |
| Australian genome-wide association study confirms higher female risk for adult glioma associated with variants in the region of CCDC26. | Alpen K et al. | β | 2023 | β |
| A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants. | Choi J et al. | β | 2023 | β |
| Bacterial Community Modifies Host Genetics Effect on Early Childhood Caries. | Blostein F et al. | β | 2023 | β |
| B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus. | Hedenstedt A et al. | β | 2023 | β |
| Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits. | Zhang BC et al. | β | 2023 | β |
| Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits. | Hatton AA et al. | β | 2023 | β |
| Blood cell traits' GWAS loci colocalization with variation in PU.1 genomic occupancy prioritizes causal noncoding regulatory variants. | Jeong R et al. | β | 2023 | β |
| Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases. | de Klein N et al. | β | 2023 | β |
| Cardiovascular risk factors and major recurrent coronary events: A genetic liability study in patients with coronary artery disease in the UK Biobank. | Noordam R et al. | β | 2023 | β |
| Causal associations between cardiorespiratory fitness and type 2 diabetes. | Cai L et al. | β | 2023 | β |
| Cell-type-specific Alzheimer's disease polygenic risk scores are associated with distinct disease processes in Alzheimer's disease. | Yang HS et al. | β | 2023 | β |
| Chronotype Polygenic Score and the Timing and Quality of Workplace Cafeteria Purchases: Secondary Analysis of the ChooseWell 365 Randomized Controlled Trial. | Dashti HS et al. | β | 2023 | β |
| Circulating metabolites modulated by diet are associated with depression. | van der Spek A et al. | β | 2023 | β |
| Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases. | Lakeman IMM et al. | β | 2023 | β |
| Clinical trait-specific genetic analysis in BehΓ§et's disease identifies novel loci associated with ocular and neurological involvement. | Casares-Marfil D et al. | β | 2023 | β |
| Cohort profile: Genetic data in the German Socio-Economic Panel Innovation Sample (SOEP-G). | Koellinger PD et al. | β | 2023 | β |
| Combined effects of inflammation and coronavirus disease 2019 (COVID-19) on the risks of anxiety and depression: A cross-sectional study based on UK Biobank. | Zhang N et al. | β | 2023 | β |
| Comparing feature selection and machine learning approaches for predicting <i>CYP2D6</i> methylation from genetic variation. | Fong WJ et al. | β | 2023 | β |
| Comparison of multiple imputation and other methods for the analysis of imputed genotypes. | Auer PL et al. | β | 2023 | β |
| Comprehensive epigenomic profiling reveals the extent of disease-specific chromatin states and informs target discovery in ankylosing spondylitis. | Brown AC et al. | β | 2023 | β |
| Concordance of a High Lipoprotein(a) Concentration Among Relatives. | Reeskamp LF et al. | β | 2023 | β |
| Construction of a strawberry breeding core collection to capture and exploit genetic variation. | Koorevaar T et al. | β | 2023 | β |
| Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D. | Wang X et al. | β | 2023 | β |
| Developing and validating a multivariable prediction model which predicts progression of intermediate to late age-related macular degeneration-the PINNACLE trial protocol. | Sutton J et al. | β | 2023 | β |
| Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove. | Tsakok T et al. | β | 2023 | β |
| Discovering cellular programs of intrinsic and extrinsic drivers of metabolic traits using LipocyteProfiler. | Laber S et al. | β | 2023 | β |
| Disentangling the interplay between genes, cognitive skills, and educational level in adolescent and young adult smoking - The TRAILS study. | Schmengler H et al. | β | 2023 | β |
| Do Poor Diet and Lifestyle Behaviors Modify the Genetic Susceptibility to Impulsivity in the General Population? | Xie T et al. | β | 2023 | β |
| Effect of CYP2C19 polymorphisms on antidepressant prescription patterns and treatment emergent mania in bipolar disorder. | Joas E et al. | β | 2023 | β |
| Effects of urban living environments on mental health in adults. | Xu J et al. | β | 2023 | β |
| Efficient gene-environment interaction testing through bootstrap aggregating. | Lau M et al. | β | 2023 | β |
| Elucidation of the genetic causes of bicuspid aortic valve disease. | Gehlen J et al. | β | 2023 | β |
| Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. | Nassar AH et al. | β | 2023 | β |
| Estimation and implications of the genetic architecture of fasting and non-fasting blood glucose. | Qiao Z et al. | β | 2023 | β |
| Ethnic disparities in fracture risk assessment using polygenic scores. | Xiao X et al. | β | 2023 | β |
| European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. | Budu-Aggrey A et al. | β | 2023 | β |
| Evaluating the interaction between 3'aQTL and alcohol consumption/smoking on anxiety and depression: 3'aQTL-by-environment interaction study in UK Biobank cohort. | Yang X et al. | β | 2023 | β |
| Evaluation of noninvasive biospecimens for transcriptome studies. | Martorella M et al. | β | 2023 | β |
| Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets. | Singhal P et al. | β | 2023 | β |
| Examining the relationship between genetic risk for depression and youth episodic stress exposure. | Harrison TJ et al. | β | 2023 | β |
| Exploiting parallelization in positional Burrows-Wheeler transform (PBWT) algorithms for efficient haplotype matching and compression. | Wertenbroek R et al. | β | 2023 | β |
| Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians. | Piccardi M et al. | β | 2023 | β |
| Fast-food environments and BMI changes in the Dutch adult general population: the Lifelines cohort. | van Erpecum CL et al. | β | 2023 | β |
| Genetically and environmentally predicted obesity in relation to cardiovascular disease: a nationwide cohort study. | Ojalehto E et al. | β | 2023 | β |
| Genetic and Gene Expression Resources for Osteoporosis and Bone Biology Research. | Kaya S et al. | β | 2023 | β |
| Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease. | Young WJ et al. | β | 2023 | β |
| Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots. | AlbiΓ±ana C et al. | β | 2023 | β |
| Genetic correlation, causal relationship, and shared loci between vitamin D and COVID-19: A genome-wide cross-trait analysis. | Qiu S et al. | β | 2023 | β |
| Genetic Effect on Body Mass Index and Cardiovascular Disease Across Generations. | Sarnowski C et al. | β | 2023 | β |
| Genetic effects on the timing of parturition and links to fetal birth weight. | SolΓ©-Navais P et al. | β | 2023 | β |
| Genetic Influence of Fracture Nonunion (FNU): A Systematic Review. | Sadat-Ali M et al. | β | 2023 | β |
| Genetic liability to posttraumatic stress disorder and its association with postpartum depression. | Bang Madsen K et al. | β | 2023 | β |
| Genetic predisposition to depression and inflammation impacts symptom burden and survival in patients with head and neck cancer: A longitudinal study. | Henry M et al. | β | 2023 | β |
| Genetic predisposition to macronutrient preference and workplace food choices. | Merino J et al. | β | 2023 | β |
| Genetic risk converges on regulatory networks mediating early type 2 diabetes. | Walker JT et al. | β | 2023 | β |
| Genetic risk scores: are they important for diabetes management? results from multiple cross-sectional studies. | Nagarajah S et al. | β | 2023 | β |
| Genetics of vegetarianism: A genome-wide association study. | Yaseen NR et al. | β | 2023 | β |
| Genetic Variants as Predictors of the Success of Colorectal Cancer Treatments. | Garcia-Etxebarria K et al. | β | 2023 | β |
| Genetic Variants Associated with Longitudinal Cognitive Performance in Older Breast Cancer Patients and Controls. | Nudelman K et al. | β | 2023 | β |
| Genetic Variants That Impact Alternative Polyadenylation in Cancer Represent Candidate Causal Risk Loci. | Li B et al. | β | 2023 | β |
| Genetic variation in <i>TERT</i> modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study. | Buch S et al. | β | 2023 | β |
| Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. | Demontis D et al. | β | 2023 | β |
| Genome-Wide Analysis of Dental Caries Variability Reveals Genotype-by-Environment Interactions. | Zou T et al. | β | 2023 | β |
| Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake. | Williamson A et al. | β | 2023 | β |
| Genome-wide Association Study for AKI. | Bhatraju PK et al. | β | 2023 | β |
| Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon. | Esoh KK et al. | β | 2023 | β |
| Genome-wide association study of abdominal MRI-measured visceral fat: The multiethnic cohort adiposity phenotype study. | Streicher SA et al. | β | 2023 | β |
| Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors. | Klimentidis YC et al. | β | 2023 | β |
| Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins. | Oatman SR et al. | β | 2023 | β |
| Genome-Wide Association Study of Metachronous Colorectal Adenoma Risk among Participants in the Selenium Trial. | Trejo MJ et al. | β | 2023 | β |
| Genome-wide Association Study Shows That Executive Functioning Is Influenced by GABAergic Processes and Is a Neurocognitive Genetic Correlate of Psychiatric Disorders. | Hatoum AS et al. | β | 2023 | β |
| Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk. | Ying P et al. | β | 2023 | β |
| Genome-Wide Gene-Set Analysis Identifies Molecular Mechanisms Associated with ALS. | Vasilopoulou C et al. | β | 2023 | β |
| Genome-wide interaction analysis of folate for colorectal cancer risk. | Bouras E et al. | β | 2023 | β |
| Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response. | Carreras-Torres R et al. | β | 2023 | β |
| Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. | GelemanoviΔ A et al. | β | 2023 | β |
| Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring. | Petter E et al. | β | 2023 | β |
| Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels. | Shi M et al. | β | 2023 | β |
| GWAS for the composite traits of hematuria and albuminuria. | Gagliano Taliun SA et al. | β | 2023 | β |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. | International League Against Epilepsy Consortium on Complex Epilepsies | β | 2023 | β |
| Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants. | Gueuning M et al. | β | 2023 | β |
| High polygenic risk score for exceptional longevity is associated with a healthy metabolic profile. | Revelas M et al. | β | 2023 | β |
| High-Risk Pedigree Study Identifies <i>LRBA</i> (rs62346982) as a Likely Predisposition Variant for Prostate Cancer. | Cannon-Albright LA et al. | β | 2023 | β |
| HLA Variation and SARS-CoV-2 Specific Antibody Response. | Wolday D et al. | β | 2023 | β |
| Human leukocyte antigen alleles associate with COVID-19 vaccine immunogenicity and risk of breakthrough infection. | Mentzer AJ et al. | β | 2023 | β |
| Human-specific evolutionary markers linked to foetal neurodevelopment modulate brain surface area in schizophrenia. | Guardiola-Ripoll M et al. | β | 2023 | β |
| Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients. | Kim DJ et al. | β | 2023 | β |
| Identification of candidate DNA methylation biomarkers related to Alzheimer's disease risk by integrating genome and blood methylome data. | Sun Y et al. | β | 2023 | β |
| Identification of genetic variants associated with diabetic kidney disease in multiple Korean cohorts via a genome-wide association study mega-analysis. | Jin H et al. | β | 2023 | β |
| Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios. | DΓez-Villanueva A et al. | β | 2023 | β |
| Identification of novel genes for age-at-onset of Alzheimer's disease by combining quantitative and survival trait analyses. | Li YJ et al. | β | 2023 | β |
| Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort. | Durand A et al. | β | 2023 | β |
| Identification of specific susceptibility loci for the early-onset colorectal cancer. | Wang H et al. | β | 2023 | β |
| Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations. | Nardone GG et al. | β | 2023 | β |
| Identifying Rare Genetic Determinants for Improved Polygenic Risk Prediction of Bone Mineral Density and Fracture Risk. | Lu T et al. | β | 2023 | β |
| ILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications. | Herrick N et al. | β | 2023 | β |
| Imputation of ancient human genomes. | Sousa da Mota B et al. | β | 2023 | β |
| Inferring the Genetic Influences on Psychological Traits Using MRI Connectivity Predictive Models: Demonstration with Cognition. | Hatoum AS et al. | β | 2023 | β |
| Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension. | van Duijvenboden S et al. | β | 2023 | β |
| Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges. | Chan AP et al. | β | 2023 | β |
| Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing. | Sheng X et al. | β | 2023 | β |
| Investigation of heteroscedasticity in polygenic risk scores across 15 quantitative traits. | Jung H et al. | β | 2023 | β |
| Joint associations between established genetic susceptibility loci, pesticide exposures, and risk of prostate cancer. | Hurwitz LM et al. | β | 2023 | β |
| KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study. | Schachtl-Riess JF et al. | β | 2023 | β |
| Large-Scale Genetic Correlation Analysis between Spondyloarthritis and Human Blood Metabolites. | Yang M et al. | β | 2023 | β |
| Large-scale proteome and metabolome analysis of CSF implicates altered glucose and carbon metabolism and succinylcarnitine in Alzheimer's disease. | Panyard DJ et al. | β | 2023 | β |
| Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis. | Mullin BH et al. | β | 2023 | β |
| Liver-Specific Polygenic Risk Score Is Associated with Alzheimer's Disease Diagnosis. | Panyard DJ et al. | β | 2023 | β |
| Locus for severity implicates CNS resilience in progression of multiple sclerosis. | International Multiple Sclerosis Genetics Consortium et al. | β | 2023 | β |
| Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study. | Allen RJ et al. | β | 2023 | β |
| Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research. | Bridges EC et al. | β | 2023 | β |
| Machine learning analyses reveal circadian clock features predictive of anxiety among UK biobank participants. | Ventresca C et al. | β | 2023 | β |
| Mapping microRNA expression quantitative trait loci in the prenatal human brain implicates miR-1908-5p expression in bipolar disorder and other brain-related traits. | Toste CC et al. | β | 2023 | β |
| Mapping of the gene network that regulates glycan clock of ageing. | FrkatoviΔ-HodΕΎiΔ A et al. | β | 2023 | β |
| Maternal prenatal depression is associated with dysregulation over the first five years of life moderated by child polygenic risk for comorbid psychiatric problems. | Babineau V et al. | β | 2023 | β |
| Mediation analysis of multiple mediators with incomplete omics data. | Kidd J et al. | β | 2023 | β |
| Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer's disease patients are associated with cognitive impairment. | Xicota L et al. | β | 2023 | β |
| Mosaic Chromosomal Alterations Are Associated With Increased Lung Cancer Risk: Insight From the INTEGRAL-ILCCO Cohort Analysis. | Cheng C et al. | β | 2023 | β |
| Multi-ethnic Imputation System (MI-System): A genotype imputation server for high-dimensional data. | Chattopadhyay A et al. | β | 2023 | β |
| Multi-omic underpinnings of epigenetic aging and human longevity. | Mavromatis LA et al. | β | 2023 | β |
| Multi-PGS enhances polygenic prediction by combining 937 polygenic scores. | AlbiΓ±ana C et al. | β | 2023 | β |
| Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival. | Sun Z et al. | β | 2023 | β |
| Multi-source data approach for personalized outcome prediction in lung cancer screening: update from the NELSON trial. | Sidorenkov G et al. | β | 2023 | β |
| Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits. | Bahda M et al. | β | 2023 | β |
| Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. | Hatoum AS et al. | β | 2023 | β |
| Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning. | Neumann A et al. | β | 2023 | β |
| Myocardial Recovery in Recent Onset Dilated Cardiomyopathy: Role of <i>CDCP1</i> and Cardiac Fibrosis. | Liu D et al. | β | 2023 | β |
| New insights from genetic studies of eczema. | Marenholz I et al. | β | 2023 | β |
| No Evidence of a Genetic Causal Relationship between Ankylosing Spondylitis and Gut Microbiota: A Two-Sample Mendelian Randomization Study. | Yang M et al. | β | 2023 | β |
| Noncoding rare variants in PANX3 are associated with chronic back pain. | Belonogova NM et al. | β | 2023 | β |
| Novel Genetic Variants in TP37, PIK3R1, CALM1, and PLCG2 of the Neurotrophin Signaling Pathway Are Associated with the Progression from Mild Cognitive Impairment to Alzheimer's Disease. | Li H et al. | β | 2023 | β |
| Omega-3 polygenic score protects against altered eating behavior in intrauterine growth-restricted children. | Jaramillo-Ospina AM et al. | β | 2023 | β |
| Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance. | Dekeyser T et al. | β | 2023 | β |
| Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects. | Duchen D et al. | β | 2023 | β |
| Patterns of item nonresponse behaviour to survey questionnaires are systematic and associated with genetic loci. | Mignogna G et al. | β | 2023 | β |
| Performance and accuracy evaluation of reference panels for genotype imputation in sub-Saharan African populations. | Sengupta D et al. | β | 2023 | β |
| Phage display sequencing reveals that genetic, environmental, and intrinsic factors influence variation of human antibody epitope repertoire. | Andreu-SΓ‘nchez S et al. | β | 2023 | β |
| Pharmacogenomic and Statistical Analysis. | Bai H et al. | β | 2023 | β |
| Phenotypic effects of genetic variants associated with autism. | Rolland T et al. | β | 2023 | β |
| Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. | Stevenson-Hoare J et al. | β | 2023 | β |
| Plasma Concentrations of Calcium and Risk of Alzheimer Disease-Observational and Genetic Studies. | Thomassen JQ et al. | β | 2023 | β |
| Polygenic indices for cognition in healthy aging; the role of brain measures. | Tsapanou A et al. | β | 2023 | β |
| Polygenic predisposition, sleep duration, and depression: evidence from a prospective population-based cohort. | Hamilton OS et al. | β | 2023 | β |
| Polygenic Propensity for Longevity, APOE-Ξ΅4 Status, Dementia Diagnosis, and Risk for Cause-Specific Mortality: A Large Population-Based Longitudinal Study of Older Adults. | Ajnakina O et al. | β | 2023 | β |
| Polygenic risk for mental disorders as predictors of posttraumatic stress disorder after mild traumatic brain injury. | Stein MB et al. | β | 2023 | β |
| Polygenic risk scores for asthma and allergic disease associate with COVID-19 severity in 9/11 responders. | Waszczuk MA et al. | β | 2023 | β |
| Polygenic risk scores of lithium response and treatment resistance in major depressive disorder. | Xiong Y et al. | β | 2023 | β |
| Polygenic Susceptibility to Hypertension and Blood Pressure Control in Stroke Survivors. | Acosta JN et al. | β | 2023 | β |
| Polygenic Susceptibility to Hypertension and Cognitive Performance in Middle-aged Persons Without Stroke or Dementia. | Rivier CA et al. | β | 2023 | β |
| Polymorphic short tandem repeats make widespread contributions to blood and serum traits. | Margoliash J et al. | β | 2023 | β |
| Positive personality traits moderate persistent high alcohol consumption, determined by polygenic risk in U.S. military veterans: results from a 10-year, population-based, observational cohort study. | Na P et al. | β | 2023 | β |
| Potential therapeutic targets for sarcopenia identified by Mendelian randomisation. | Jiang W et al. | β | 2023 | β |
| Pragmatic Approach to Applying Polygenic Risk Scores to Diverse Populations. | Patel AP et al. | β | 2023 | β |
| Predictive models for abdominal aortic aneurysms using polygenic scores and PheWAS-derived risk factors. | Hellwege JN et al. | β | 2023 | β |
| Prenatal Vitamin D Levels Influence Growth and Body Composition until 11 Years in Boys. | Sanguesa J et al. | β | 2023 | β |
| Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases. | Carland C et al. | β | 2023 | β |
| Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis. | Wang B et al. | β | 2023 | β |
| Quantifying the Relationship Between Physical Activity Energy Expenditure and Incident Type 2 Diabetes: A Prospective Cohort Study of Device-Measured Activity in 90,096 Adults. | Strain T et al. | β | 2023 | β |
| Receptive Language Abilities for Females Exposed to Early Life Adversity: Modification by Epigenetic Age Acceleration at Midlife in a 30-Year Prospective Cohort Study. | Felt JM et al. | β | 2023 | β |
| Red cell distribution width and its polygenic score in relation to mortality and cardiometabolic outcomes. | Pan J et al. | β | 2023 | β |
| Risk Factors for Binge Drinking in Young Adulthood: The Roles of Aggregate Genetic Liability and Impulsivity-Related Processes. | Lannoy S et al. | β | 2023 | β |
| Schizophrenia polygenic risk score in psychosis proneness. | Mas-Bermejo P et al. | β | 2023 | β |
| Serotonin transporter (5-HTT) gene network moderates the impact of prenatal maternal adversity on orbitofrontal cortical thickness in middle childhood. | Sunderji A et al. | β | 2023 | β |
| Splicing transcriptome-wide association study to identify splicing events for pancreatic cancer risk. | Liu D et al. | β | 2023 | β |
| Testing a Polygenic Risk Score for Morphological Microglial Activation in Alzheimer's Disease and Aging. | Tio ES et al. | β | 2023 | β |
| Testing associations between human anxiety and genes previously implicated by mouse anxiety models. | Brasher MS et al. | β | 2023 | β |
| The clinical utility of the BMD-related comprehensive genome-wide polygenic score in identifying individuals with a high risk of osteoporotic fractures. | Xiao X et al. | β | 2023 | β |
| The collaborative study on the genetics of alcoholism: Genetics. | Johnson EC et al. | β | 2023 | β |
| The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders. | Borbye-Lorenzen N et al. | β | 2023 | β |
| The Effects of CYP2C19 Genotype on Proxies of SSRI Antidepressant Response in the UK Biobank. | Wong WLE et al. | β | 2023 | β |
| The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. | Rahmioglu N et al. | β | 2023 | β |
| The genetic contribution of the X chromosome in age-related hearing loss. | Naderi E et al. | β | 2023 | β |
| The impact of placental genomic risk for schizophrenia and birth asphyxia on brain development. | Wortinger LA et al. | β | 2023 | β |
| The impact of rare protein coding genetic variation on adult cognitive function. | Chen CY et al. | β | 2023 | β |
| The impact of sociodemographic status on the association of classical cardiovascular risk factors with coronary artery disease: a stratified Mendelian randomization study. | Martens LG et al. | β | 2023 | β |
| The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients. | Zawistowski M et al. | β | 2023 | β |
| The phenotypic and genotypic association of grip strength with frailty, physical performance and functional limitations over time in older adults. | Stringa N et al. | β | 2023 | β |
| The relationship between case-control differential gene expression from brain tissue and genetic associations in schizophrenia. | Clifton NE et al. | β | 2023 | β |
| The Role of Genetics in Clinically Suspect Arthralgia and Rheumatoid Arthritis Development: A Large Cross-Sectional Study. | Maurits MP et al. | β | 2023 | β |
| The shared genetic architecture of smoking behaviours and psychiatric disorders: evidence from a population-based longitudinal study in England. | Ajnakina O et al. | β | 2023 | β |
| The size and composition of haplotype reference panels impact the accuracy of imputation from low-pass sequencing in cattle. | Lloret-Villas A et al. | β | 2023 | β |
| The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank. | Johnson R et al. | β | 2023 | β |
| Time-varying effects are common in genetic control of gestational duration. | Juodakis J et al. | β | 2023 | β |
| Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification. | Gollmann-TepekΓΆylΓΌ C et al. | β | 2023 | β |
| Toxin exposure and HLA alleles determine serum antibody binding to toxic shock syndrome toxin 1 (TSST-1) of <i>Staphylococcus aureus</i>. | Weiss S et al. | β | 2023 | β |
| Transcriptome-wide gene-gene interaction associations elucidate pathways and functional enrichment of complex traits. | Evans LM et al. | β | 2023 | β |
| Translating non-coding genetic associations into a better understanding of immune-mediated disease. | Stankey CT et al. | β | 2023 | β |
| Tuberculosis severity associates with variants and eQTLs related to vascular biology and infection-induced inflammation. | McHenry ML et al. | β | 2023 | β |
| Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks. | Fritsche LG et al. | β | 2023 | β |
| Unravelling the genetic architecture of human complex traits through whole genome sequencing. | Bocher O et al. | β | 2023 | β |
| Using epigenomics to understand cellular responses to environmental influences in diseases. | Wattacheril JJ et al. | β | 2023 | β |
| Using Genomic Structural Equation Modeling to Partition the Genetic Covariance Between Birthweight and Cardiometabolic Risk Factors into Maternal and Offspring Components in the Norwegian HUNT Study. | Moen GH et al. | β | 2023 | β |
| Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy. | Khan Z et al. | β | 2023 | β |
| 3D genome organization links non-coding disease-associated variants to genes. | Orozco G et al. | β | 2022 | β |
| Abnormal cerebrospinal fluid levels of amyloid and tau are associated with cognitive decline over time in cognitively normal older adults: A monozygotic twin study. | Tomassen J et al. | β | 2022 | β |
| Accurate genome-wide genotyping from archival tissue to explore the contribution of common genetic variants to pre-cancer outcomes. | Nachmanson D et al. | β | 2022 | β |
| A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations. | Nguyen DT et al. | β | 2022 | β |
| A genome-wide association study implicates the pleiotropic effect of NMUR2 on asthma and COPD. | Do AR et al. | β | 2022 | β |
| A Genome-Wide Association Study of 2304 Extreme Longevity Cases Identifies Novel Longevity Variants. | Bae H et al. | β | 2022 | β |
| A large genome-wide association study of QT interval length utilizing electronic health records. | Hoffmann TJ et al. | β | 2022 | β |
| Algorithmic identification of atypical diabetes in electronic health record (EHR) systems. | Cromer SJ et al. | β | 2022 | β |
| Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms. | Grishin D et al. | β | 2022 | β |
| Alzheimer's polygenic hazard score in SuperAgers: SuperGenes or SuperResilience? | Spencer BE et al. | β | 2022 | β |
| A Method for Bridging Population-Specific Genotypes to Detect Gene Modules Associated with Alzheimer's Disease. | Dai Y et al. | β | 2022 | β |
| A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. | Ramdas S et al. | β | 2022 | β |
| Amyloid-Ξ² and APOE genotype predict memory decline in cognitively unimpaired older individuals independently of Alzheimer's disease polygenic risk score. | Tomassen J et al. | β | 2022 | β |
| Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese. | Wang C et al. | β | 2022 | β |
| Analysis of germline-driven ancestry-associated gene expression in cancers. | Chambwe N et al. | β | 2022 | β |
| Analytic pipelines to assess the relationship between immune response and germline genetics in human tumors. | Sayaman RW et al. | β | 2022 | β |
| Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population. | Hwang MY et al. | β | 2022 | β |
| An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access. | Jones AV et al. | β | 2022 | β |
| Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis. | Choquet H et al. | β | 2022 | β |
| 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. | β | 2022 | β |
| Assessing the effect of interaction between gut microbiome and inflammatory bowel disease on the risks of depression. | Qin X et al. | β | 2022 | β |
| Association between a polygenic and family risk score on the prevalence and incidence of myocardial infarction in the KORA-F3 study. | Schnitzer F et al. | β | 2022 | β |
| Association Between Polygenic Risk Scores and Outcome of ECT. | SigstrΓΆm R et al. | β | 2022 | β |
| Association of Chronic Kidney Disease With Risk of Intracerebral Hemorrhage. | Vanent KN et al. | β | 2022 | β |
| 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. | β | 2022 | β |
| Association of GLP1R Polymorphisms With the Incretin Response. | Dorsey-Trevino EG et al. | β | 2022 | β |
| Association of <i>APOE</i>-Independent Alzheimer Disease Polygenic Risk Score With Brain Amyloid Deposition in Asymptomatic Older Adults. | Xicota L et al. | β | 2022 | β |
| Association with HLA-DRΞ²1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis. | Deakin CT et al. | β | 2022 | β |
| A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility. | Voloudakis G et al. | β | 2022 | β |
| Brain-specific genes contribute to chronic but not to acute back pain. | Bortsov AV et al. | β | 2022 | β |
| Capturing additional genetic risk from family history for improved polygenic risk prediction. | Lu T et al. | β | 2022 | β |
| Case Report: Supernormal Vascular Aging in Leningrad Siege Survivors. | Rotar O et al. | β | 2022 | β |
| Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders. | Bryois J et al. | β | 2022 | β |
| Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity. | Ferreira JC et al. | β | 2022 | β |
| Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions. | Genovese G et al. | β | 2022 | β |
| Clustered Mendelian randomization analyses identify distinct and opposing pathways in the association between genetically influenced insulin-like growth factor-1 and type 2 diabetes mellitus. | Wang W et al. | β | 2022 | β |
| Cognitive Capacity Genome-Wide Polygenic Scores Identify Individuals with Slower Cognitive Decline in Aging. | Joo YY et al. | β | 2022 | β |
| Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. | Fadista J et al. | β | 2022 | β |
| Construction and Application of Polygenic Risk Scores in Autoimmune Diseases. | Khunsriraksakul C et al. | β | 2022 | β |
| Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. | Otsuki A et al. | β | 2022 | β |
| Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome. | Alver M et al. | β | 2022 | β |
| COX7A2L genetic variants determine cardiorespiratory fitness in mice and human. | Benegiamo G et al. | β | 2022 | β |
| Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. | Byun J et al. | β | 2022 | β |
| Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification. | Dapas M et al. | β | 2022 | β |
| Demographic and Selection Histories of Populations Across the Sahel/Savannah Belt. | Fortes-Lima C et al. | β | 2022 | β |
| Diet quality, common genetic polymorphisms, and bladder cancer risk in a New England population-based study. | Leeming RC et al. | β | 2022 | β |
| Discerning asthma endotypes through comorbidity mapping. | Jia G et al. | β | 2022 | β |
| EagleImp: fast and accurate genome-wide phasing and imputation in a single tool. | Wienbrandt L et al. | β | 2022 | β |
| Educational attainment polygenic scores, socioeconomic factors, and cortical structure in children and adolescents. | Merz EC et al. | β | 2022 | β |
| Effects of DRD2/ANKK1 and COMT Val158Met polymorphisms on stabilization against and adaptation to unexpected events. | Trempler I et al. | β | 2022 | β |
| Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks. | Dey R et al. | β | 2022 | β |
| Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology. | PihlstrΓΈm L et al. | β | 2022 | β |
| Evaluating the role of common risk variation in the recurrence risk of schizophrenia in multiplex schizophrenia families. | Ahangari M et al. | β | 2022 | β |
| ExPRSweb: An online repository with polygenic risk scores for common health-related exposures. | Ma Y et al. | β | 2022 | β |
| Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing. | Hanks SC et al. | β | 2022 | β |
| Facial Emotion Recognition in Psychosis and Associations With Polygenic Risk for Schizophrenia: Findings From the Multi-Center EU-GEI Case-Control Study. | Tripoli G et al. | β | 2022 | β |
| Gene-environment correlations across geographic regions affect genome-wide association studies. | Abdellaoui A et al. | β | 2022 | β |
| Gene set enrichment analysis of pathophysiological pathways highlights oxidative stress in psychosis. | Pistis G et al. | β | 2022 | β |
| Genetically predicted telomere length and Alzheimer's disease endophenotypes: a Mendelian randomization study. | RodrΓguez-FernΓ‘ndez B et al. | β | 2022 | β |
| Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. | Young WJ et al. | β | 2022 | β |
| Genetic Association Between Epigenetic Aging-Acceleration and the Progression of Mild Cognitive Impairment to Alzheimer's Disease. | Liu H et al. | β | 2022 | β |
| Genetic correlates of phenotypic heterogeneity in autism. | Warrier V et al. | β | 2022 | β |
| Genetic determinants of apixaban plasma levels and their relationship to bleeding and thromboembolic events. | Attelind S et al. | β | 2022 | β |
| Genetic determinants of chromatin reveal prostate cancer risk mediated by context-dependent gene regulation. | Baca SC et al. | β | 2022 | β |
| Genetic determinants of fungi-induced ROS production are associated with the risk of invasive pulmonary aspergillosis. | Matzaraki V et al. | β | 2022 | β |
| Genetic determinants of polygenic prediction accuracy within a population. | Lu T et al. | β | 2022 | β |
| Genetic diversity fuels gene discovery for tobacco and alcohol use. | Saunders GRB et al. | β | 2022 | β |
| Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK. | Piga NN et al. | β | 2022 | β |
| Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies. | Gorski M et al. | β | 2022 | β |
| Genetic, parental and lifestyle factors influence telomere length. | Andreu-SΓ‘nchez S et al. | β | 2022 | β |
| Genetic regulation of RNA splicing in human pancreatic islets. | Atla G et al. | β | 2022 | β |
| Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. | Kar SP et al. | β | 2022 | β |
| Genome-wide association analyses of common infections in a large practice-based biobank. | Jiang L et al. | β | 2022 | β |
| Genome-Wide Association Analysis of Over 170,000 Individuals from the UK Biobank Identifies Seven Loci Associated with Dietary Approaches to Stop Hypertension (DASH) Diet. | Mompeo O et al. | β | 2022 | β |
| Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis. | Allen RJ et al. | β | 2022 | β |
| Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes. | Vollenbrock CE et al. | β | 2022 | β |
| Genome-wide association study identifies SjΓΆgren's risk loci with functional implications in immune and glandular cells. | Khatri B et al. | β | 2022 | β |
| Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness. | Joo J et al. | β | 2022 | β |
| Genome-Wide Association Study of Airway Wall Thickening in a Korean Chronic Obstructive Pulmonary Disease Cohort. | Do AR et al. | β | 2022 | β |
| Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. | Krohn L et al. | β | 2022 | β |
| Genome-wide discovery for diabetes-dependent triglycerides-associated loci. | Selvaraj MS et al. | β | 2022 | β |
| Genome-wide polygenic score to predict chronic kidney disease across ancestries. | Khan A et al. | β | 2022 | β |
| Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases. | Li Y et al. | β | 2022 | β |
| Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project. | Cong PK et al. | β | 2022 | β |
| Genotype imputation and polygenic score estimation in northwestern Russian population. | Kolosov N et al. | β | 2022 | β |
| GWAS of depression in 4,520 individuals from the Russian population highlights the role of <i>MAGI2</i> (<i>S-SCAM</i>) in the gut-brain axis. | Pinakhina D et al. | β | 2022 | β |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. | Byrska-Bishop M et al. | β | 2022 | β |
| Identification of 4 New Loci Associated With Primary Hyperparathyroidism (PHPT) and a Polygenic Risk Score for PHPT. | Soto-Pedre E et al. | β | 2022 | β |
| Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups. | Mattheisen M et al. | β | 2022 | β |
| Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex. | Liu S et al. | β | 2022 | β |
| Immunity gene <i>IFITM3</i> variant: Relation to cognition and Alzheimer's disease pathology. | Pyun JM et al. | β | 2022 | β |
| Impact of Human Genetic Variation on C-Reactive Protein Concentrations and Acute Appendicitis. | RicaΓ±o-Ponce I et al. | β | 2022 | β |
| Incorporating family disease history and controlling case-control imbalance for population-based genetic association studies. | Zhuang Y et al. | β | 2022 | β |
| Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis. | Hindy G et al. | β | 2022 | β |
| Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome. | Chen L et al. | β | 2022 | β |
| Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men. | Teleka S et al. | β | 2022 | β |
| Interactions between folate intake and genetic predictors of gene expression levels associated with colorectal cancer risk. | Haas CB et al. | β | 2022 | β |
| Investigating the genetic architecture of eye colour in a Canadian cohort. | Lona-Durazo F et al. | β | 2022 | β |
| <i>TREML2</i> Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General Population. | KΓΌhn AL et al. | β | 2022 | β |
| Large-scale Integrated Analysis of Genetics and Metabolomic Data Reveals Potential Links Between Lipids and Colorectal Cancer Risk. | Shu X et al. | β | 2022 | β |
| Leptin receptor co-expression gene network moderates the effect of early life adversity on eating behavior in children. | de Lima RMS et al. | β | 2022 | β |
| Limited evidence for blood eQTLs in human sexual dimorphism. | Porcu E et al. | β | 2022 | β |
| LmTag: functional-enrichment and imputation-aware tag SNP selection for population-specific genotyping arrays. | Thanh Nguyen D et al. | β | 2022 | β |
| Machine Learning-Based Prediction of Impulse Control Disorders in Parkinson's Disease From Clinical and Genetic Data. | Faouzi J et al. | β | 2022 | β |
| Mendelian imputation of parental genotypes improves estimates of direct genetic effects. | Young AI et al. | β | 2022 | β |
| Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities. | Shadrina AS et al. | β | 2022 | β |
| Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease. | Yavuz S et al. | β | 2022 | β |
| Meta-analysis fine-mapping is often miscalibrated at single-variant resolution. | Kanai M et al. | β | 2022 | β |
| Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals. | Strom NI et al. | β | 2022 | β |
| Mild-to-Moderate Kidney Dysfunction and Cardiovascular Disease: Observational and Mendelian Randomization Analyses. | Gaziano L et al. | β | 2022 | β |
| Moment estimators of relatedness from low-depth whole-genome sequencing data. | Herzig AF et al. | β | 2022 | β |
| Multi-ancestry genome-wide association study of asthma exacerbations. | Herrera-Luis E et al. | β | 2022 | β |
| Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. | Pervjakova N et al. | β | 2022 | β |
| Multimodal biomedical AI. | Acosta JN et al. | β | 2022 | β |
| NAFLD: genetics and its clinical implications. | Sharma D et al. | β | 2022 | β |
| Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity. | Gilchrist JJ et al. | β | 2022 | β |
| NGS allele counts versus called genotypes for testing genetic association. | GonzΓ‘lez Silos R et al. | β | 2022 | β |
| Open problems in human trait genetics. | Brandes N et al. | β | 2022 | β |
| Parent-of-Origin inference for biobanks. | Hofmeister RJ et al. | β | 2022 | β |
| Performance evaluation of differential splicing analysis methods and splicing analytics platform construction. | Li K et al. | β | 2022 | β |
| Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population. | Garcia-Etxebarria K et al. | β | 2022 | β |
| PHARP: a pig haplotype reference panel for genotype imputation. | Wang Z et al. | β | 2022 | β |
| Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals. | Fang Y et al. | β | 2022 | β |
| Polygenic resilience scores capture protective genetic effects for Alzheimer's disease. | Hou J et al. | β | 2022 | β |
| Polygenic risk score as a determinant of risk of keratinocyte cancer in an Australian population-based cohort. | Liyanage UE et al. | β | 2022 | β |
| Polygenic Risk Score Predicts Sudden Death in Patients With Coronary Disease and Preserved Systolic Function. | Sandhu RK et al. | β | 2022 | β |
| Polygenic scores for low lung function and the future risk of adverse health outcomes. | Zaigham S et al. | β | 2022 | β |
| Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture. | Yuan J et al. | β | 2022 | β |
| Proteomic signatures for identification of impaired glucose tolerance. | Carrasco-Zanini J et al. | β | 2022 | β |
| Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. | Robinson JR et al. | β | 2022 | β |
| Rapid, Reference-Free human genotype imputation with denoising autoencoders. | Dias R et al. | β | 2022 | β |
| Rare genetic variants explain missing heritability in smoking. | Jang SK et al. | β | 2022 | β |
| Self-reported walking pace, polygenic risk scores and risk of coronary artery disease in UK biobank. | Zaccardi F et al. | β | 2022 | β |
| Sex-specific analysis in BehΓ§et's disease reveals higher genetic risk in male patients. | Jo YG et al. | β | 2022 | β |
| Shared genetic risk factors and causal association between psoriasis and coronary artery disease. | Patrick MT et al. | β | 2022 | β |
| SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease. | Dey KK et al. | β | 2022 | β |
| The APOE locus is linked to decline in general cognitive function: 20-years follow-up in the Doetinchem Cohort Study. | Rietman ML et al. | β | 2022 | β |
| The combined impact of persistent infections and human genetic variation on C-reactive protein levels. | Hodel F et al. | β | 2022 | β |
| The female protective effect against autism spectrum disorder. | Wigdor EM et al. | β | 2022 | β |
| The HUNT study: A population-based cohort for genetic research. | Brumpton BM et al. | β | 2022 | β |
| The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat. | GrΓΌneis R et al. | β | 2022 | β |
| The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan. | Hachiya T et al. | β | 2022 | β |
| The relationship between Alzheimer's-related brain atrophy patterns and sleep macro-architecture. | Weihs A et al. | β | 2022 | β |
| The RNA editing landscape in acute myeloid leukemia reveals associations with disease mutations and clinical outcome. | Meduri E et al. | β | 2022 | β |
| The role of common genetic variation in presumed monogenic epilepsies. | Campbell C et al. | β | 2022 | β |
| The sequences of 150,119 genomes in the UK Biobank. | Halldorsson BV et al. | β | 2022 | β |
| Thirty novel sequence variants impacting human intracranial volume. | Nawaz MS et al. | β | 2022 | β |
| Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration. | Senabouth A et al. | β | 2022 | β |
| Using a polygenic score in a family design to understand genetic influences on musicality. | Wesseldijk LW et al. | β | 2022 | β |
| Using genetic variation to disentangle the complex relationship between food intake and health outcomes. | Pirastu N et al. | β | 2022 | β |
| Variability of Primary SjΓΆgren's Syndrome Is Driven by Interferon-Ξ± and Interferon-Ξ± Blood Levels Are Associated With the Class II HLA-DQ Locus. | Trutschel D et al. | β | 2022 | β |
| Variants influencing age at diagnosis of HNF1A-MODY. | Ludwig-SΕomczyΕska AH et al. | β | 2022 | β |
| Visual masking deficits in schizophrenia: a view into the genetics of the disease through an endophenotype. | Shaqiri A et al. | β | 2022 | β |
| Vitamin D and Weight Change: A Mendelian Randomization, Prospective Study. | Patriota P et al. | β | 2022 | β |
| Whole-blood methylation signatures are associated with and accurately classify multiple sclerosis disease severity. | Campagna MP et al. | β | 2022 | β |
| Whole genome sequence analysis of blood lipid levels in >66,000 individuals. | Selvaraj MS et al. | β | 2022 | β |
| XSI-a genotype compression tool for compressive genomics in large biobanks. | Wertenbroek R et al. | β | 2022 | β |