Robust relationship inference in genome-wide association studies.
paper
Cited
Public
Unavailable
- Authors
- Manichaikul, Ani; Mychaleckyj, Josyf C; Rich, Stephen S; Daly, Kathy; Sale, Michèle; Chen, Wei-Min
- Year
- 2010
- Journal
- Bioinformatics (Oxford, England)
- PMID
- 20926424
- DOI
- 10.1093/bioinformatics/btq559
- PMCID
- PMC3025716
MOTIVATION: Genome-wide association studies (GWASs) have been widely used to map loci contributing to variation in complex traits and risk of diseases in humans. Accurate specification of familial relationships is crucial for family-based GWAS, as well as in population-based GWAS with unknown (or unrecognized) family structure. The family structure in a GWAS should be routinely investigated using the SNP data prior to the analysis of population structure or phenotype. Existing algorithms for relationship inference have a major weakness of estimating allele frequencies at each SNP from the entire sample, under a strong assumption of homogeneous population structure. This assumption is often untenable. RESULTS: Here, we present a rapid algorithm for relationship inference using high-throughput genotype data typical of GWAS that allows the presence of unknown population substructure. The relationship of any pair of individuals can be precisely inferred by robust estimation of their kinship coefficient, independent of sample composition or population structure (sample invariance). We present simulation experiments to demonstrate that the algorithm has sufficient power to provide reliable inference on millions of unrelated pairs and thousands of relative pairs (up to 3rd-degree relationships). Application of our robust algorithm to HapMap and GWAS datasets demonstrates that it performs properly even under extreme population stratification, while algorithms assuming a homogeneous population give systematically biased results. Our extremely efficient implementation performs relationship inference on millions of pairs of individuals in a matter of minutes, dozens of times faster than the most efficient existing algorithm known to us. AVAILABILITY: Our robust relationship inference algorithm is implemented in a freely available software package, KING, available for download at http://people.virginia.edu/βΌwc9c/KING.
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| Criteria for detection of married or cohabiting couples in the UK Biobank. | Kelly KM et al. | β | 2025 | β |
| Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites. | Ebrahimi E et al. | β | 2025 | β |
| Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites. | Lin C et al. | β | 2025 | β |
| Cross-ancestry genome-wide association study identifies implications of SORL1 in cerebral beta-amyloid deposition. | Kim JP et al. | β | 2025 | β |
| Dark side of the honeymoon: reconstructing the Asian Γ European rose breeding history through the lens of genomics. | Leroy T et al. | β | 2025 | β |
| Demographic history and genetic variation of the Armenian population. | Hovhannisyan A et al. | β | 2025 | β |
| De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population. | Bornais K et al. | β | 2025 | β |
| De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. | Allington G et al. | β | 2025 | β |
| Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort. | Lieviant JA et al. | β | 2025 | β |
| Developing a core collection for the conservation of Theobroma cacao's genetic diversity. | Todd ET et al. | β | 2025 | β |
| Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people. | Sun Q et al. | β | 2025 | β |
| Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study. | Mirza SS et al. | β | 2025 | β |
| Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. | Liu TY et al. | β | 2025 | β |
| Divide and conquer approach for genome-wide association studies. | Γzkaraca MΔ° et al. | β | 2025 | β |
| Do Common Genetic Factors Underlie Comorbidity Between Migraine and Major Depressive Disorder in Youth? | Merikangas AK et al. | β | 2025 | β |
| DrFARM: identification of pleiotropic genetic variants in genome-wide association studies. | Chan LS et al. | β | 2025 | β |
| Early life adversity and the comorbidity of psychopathology and cardiometabolic disorders: insights from the UK Biobank. | Silveira PP et al. | β | 2025 | β |
| Early-life viability selection targets deleterious mutations in exons. | Chen RS et al. | β | 2025 | β |
| Education and cardiovascular disease: a within-family Mendelian randomization analysis. | Jones PR et al. | β | 2025 | β |
| Effect of polygenic scores on the relationship between psychosis and cognition. | Varney L et al. | β | 2025 | β |
| Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS. | Goovaerts S et al. | β | 2025 | β |
| Enhancing testing efficacy of high-density SNP microarrays to distinguish pedigrees belonging to the same kinship class. | Mo SK et al. | β | 2025 | β |
| Enhancing Type 1 Diabetes Immunological Risk Prediction with Continuous Glucose Monitoring and Genetic Profiling. | Montaser E et al. | β | 2025 | β |
| Epigenetic and genetic profiling of comorbidity patterns among substance dependence diagnoses. | Pathak GA et al. | β | 2025 | β |
| ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations. | Scudeler MM et al. | β | 2025 | β |
| Evaluating Kinship Estimation Methods for Reduced-Representation SNP Data in Non-model Species. | McMaster ES et al. | β | 2025 | β |
| Evaluating metabolome-wide causal effects on risk for psychiatric and neurodegenerative disorders. | Gilchrist L et al. | β | 2025 | β |
| Evolutionary Genomics of Two Co-occurring Congeneric Fore Reef Coral Species on Guam (Mariana Islands). | Torrado H et al. | β | 2025 | β |
| Exome analysis links kidney malformations to developmental disorders and reveals causal genes. | Milo Rasouly H et al. | β | 2025 | β |
| Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA. | TΓ‘buas-Pereira M et al. | β | 2025 | β |
| Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes. | Kim GJ et al. | β | 2025 | β |
| Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. | Uwibambe E et al. | β | 2025 | β |
| Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. | BΓΌyΓΌkgΓΆl F et al. | β | 2025 | β |
| Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study. | Carter TC et al. | β | 2025 | β |
| Expanding biobank pharmacogenomics through machine learning calls of structural variation. | Vanderwerff B et al. | β | 2025 | β |
| Exploration of Genetic Liability to Insomnia and Substance Use Disorders in Patients With Bipolar Disorder. | Melhuish Beaupre LM et al. | β | 2025 | β |
| Exploring the Impact of Personality Trait Clusters on the Quality of Life of Breast Cancer Survivors: An 18-Month Prospective Follow-Up Study. | Song IM et al. | β | 2025 | β |
| Familial and genetic relationships of major depressive disorders and adiposity markers in the community. | Berney A et al. | β | 2025 | β |
| Family-based genome-wide association study designs for increased power and robustness. | Guan J et al. | β | 2025 | β |
| Female-mediated selective sperm activation may remodel major histocompatibility complex-based mate choice decisions in humans. | Jokiniemi A et al. | β | 2025 | β |
| FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries. | Wonkam A et al. | β | 2025 | β |
| Forensic assessment of kinship, genomic ancestry, and natural history of an iconic tiger of Harlem, New York City. | Wu ZB et al. | β | 2025 | β |
| Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort. | Zhang BL et al. | β | 2025 | β |
| Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome. | Christensen AH et al. | β | 2025 | β |
| Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia. | Dang X et al. | β | 2025 | β |
| Generalizability of tau and amyloid plasma biomarkers in Alzheimer's disease cohorts of diverse genetic ancestries. | Griswold AJ et al. | β | 2025 | β |
| Genetically predicted lipoprotein(a) associates with coronary artery plaque severity independent of low-density lipoprotein cholesterol. | Clarke SL et al. | β | 2025 | β |
| Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago. | Kim J et al. | β | 2025 | β |
| Genetic analysis of wild walnuts in Xinjiang based on whole-genome resequencing. | Liu Y et al. | β | 2025 | β |
| Genetic ancestry and population structure in the All of Us Research Program cohort. | Sharma S et al. | β | 2025 | β |
| Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity. | Liu S et al. | β | 2025 | β |
| Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management. | Pasookhush P et al. | β | 2025 | β |
| Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry. | Wang J et al. | β | 2025 | β |
| Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses. | Zhu C et al. | β | 2025 | β |
| Genetic associations between serotonin receptor 1F (<i>HTR1F</i>) regulatory variation and sleep apnoea in non-obese individuals: insights from GWAS and eQTL analyses. | Strausz S et al. | β | 2025 | β |
| Genetic differentiation and adaptive evolution of buff-tailed bumblebees in Asia. | Su L et al. | β | 2025 | β |
| Genetic Diversity, Admixture, and Selection Signatures in a RarΓ‘muri Criollo Cattle Population Introduced to the Southwestern United States. | Spetter MJ et al. | β | 2025 | β |
| Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia. | Qiao X et al. | β | 2025 | β |
| Genetic diversity and population structure of Pseudobagrus ussuriensis (Bagridae, Siluriformes, Actinopterygii, Osteichthyes) revealed by integrative analysis of mitochondrial genes and GBS-derived SNPs. | Cao Y et al. | β | 2025 | β |
| Genetic diversity and stress resistance evaluation of Chinese mitten crab (Eriocheir sinensis) genetic resources in the Yangtze River estuary. | Zheng C et al. | β | 2025 | β |
| Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits. | Currin KW et al. | β | 2025 | β |
| Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia. | Kuznetsov IA et al. | β | 2025 | β |
| Genetic estimates and genome-wide association studies of antibody response in Tanzanian dairy cattle. | Hernandez-Castro LE et al. | β | 2025 | β |
| Genetic insights of waist-to-height ratio on the risk of steatotic and advanced liver diseases: genome-wide association study and polygenic risk score-based analyses. | Chen H et al. | β | 2025 | β |
| Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits. | Ghatan S et al. | β | 2025 | β |
| Genetic predisposition for immunoglobulin E production explains atopic risk in children: Tohoku Medical Megabank cohort study. | Sutoh Y et al. | β | 2025 | β |
| Genetic relationships between systemic lupus erythematosus and a positive antinuclear antibody test in the absence of autoimmune disease. | Khan A et al. | β | 2025 | β |
| Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity. | Duran JA et al. | β | 2025 | β |
| Genetic risk factors for periodontitis: a genome-wide association study using UK Biobank data. | Gao C et al. | β | 2025 | β |
| Genetic Susceptibility to Type 2 Diabetes, Television Viewing, and Atherosclerotic Cardiovascular Disease Risk. | Wang M et al. | β | 2025 | β |
| Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19. | Urbanski AH et al. | β | 2025 | β |
| GeneticΒ variantsΒ associatedΒ withΒ metabolic dysfunction-associatedΒ fattyΒ liverΒ diseasesΒ inΒ aΒ KoreanΒ population. | Park JH et al. | β | 2025 | β |
| Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels. | Mack JA et al. | β | 2025 | β |
| Genome diversity and signatures of natural selection in mainland Southeast Asia. | He Y et al. | β | 2025 | β |
| Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health. | Jawinski P et al. | β | 2025 | β |
| Genome-wide association meta-analyses of drug-resistant epilepsy. | Leu C et al. | β | 2025 | β |
| Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures. | Jee YH et al. | β | 2025 | β |
| Genome-wide association studies of TDP-43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B. | Godrich D et al. | β | 2025 | β |
| Genome-Wide Association Study for Resting Electrocardiogram in the Qatari Population Identifies 6 Novel Genes and Validates Novel Polygenic Risk Scores. | Khan N et al. | β | 2025 | β |
| Genome-wide association study identifies FUT2 rs601338 polymorphism linking intra-pancreatic fat deposition to chronic pancreatitis. | Chen H et al. | β | 2025 | β |
| Genome-wide association study of chlamydia reinfection in African American women. | Tiwari HK et al. | β | 2025 | β |
| Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium. | Kan M et al. | β | 2025 | β |
| Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures. | Kang M et al. | β | 2025 | β |
| Genome-Wide Scan of Fifth Finger Clinodactyly. | Lee MK et al. | β | 2025 | β |
| Genomic analyses reveal trans-generational haul out site fidelity in leopard seals. | Bonin CA et al. | β | 2025 | β |
| Genomic analyses support locally derived crown-of-thorns seastar outbreaks in the Pacific. | Leiva C et al. | β | 2025 | β |
| Genomic ancestry and adaptive signatures in the indigenous Hetian cattle from Xinjiang Province of China revealed by whole-genome sequencing. | Liu X et al. | β | 2025 | β |
| Genomic architecture of egg mimicry and its consequences for speciation in parasitic cuckoos. | Merondun J et al. | β | 2025 | β |
| Genomic continuity of Tai-Kadai-speaking populations from Southern China to Northern Thailand. | Kampuansai J et al. | β | 2025 | β |
| Genomic data reveal a north-south split and introgression history of blood fluke populations across Africa. | Platt Ii RN et al. | β | 2025 | β |
| Genomic evidence of improved fertility and adaptation in Iranian domestic sheep attributed to introgression from Asiatic Mouflon and urial. | Khalkhali-Evrigh R et al. | β | 2025 | β |
| Genomic Exploration of Essential Hypertension in African-Brazilian Quilombo Populations: A Comprehensive Approach With Pedigree Analysis and Family-Based Association Studies. | Borges VM et al. | β | 2025 | β |
| Genomic insights and the conservation potential of captive breeding: The case of Chinese alligator. | Pan T et al. | β | 2025 | β |
| Genomic Introgression Between Critically Endangered and Stable Species of Darwin's Tree Finches on the Galapagos Islands. | Dudaniec RY et al. | β | 2025 | β |
| Genomic reconstruction reveals impact of population management strategies on modern GalΓ‘pagos dogs. | Spatola GJ et al. | β | 2025 | β |
| Genomic Risk Prediction of Incident Atrial Fibrillation in Older Individuals Without Prior Cardiovascular Disease. | Fransquet PD et al. | β | 2025 | β |
| Genomic Scan for Runs of Homozygosity and Identification of Candidate Genes Under Domestication in Fengjing Pigs. | Ni L et al. | β | 2025 | β |
| Genomics highlight an underestimation of phenology sensitivity to the urban heat island effect. | Blumstein M et al. | β | 2025 | β |
| Genomic Signatures and Demographic History of the Widespread and Critically Endangered Yellow-Breasted Bunting. | Chen G et al. | β | 2025 | β |
| Genotype imputation from low-coverage data for medical and population genetic analyses. | Biagini SA et al. | β | 2025 | β |
| Geographically proximate rare species exhibit strong population divergence while maintaining intraspecific genetic diversity in Homoranthus (Myrtaceae). | McMaster ES et al. | β | 2025 | β |
| Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity. | Sonehara K et al. | β | 2025 | β |
| Global Invasion History and Genomic Signatures of Adaptation of the Highly Invasive Sycamore Lace Bug. | Du Z et al. | β | 2025 | β |
| GPR15 differentially regulates the effects of cigarette smoke exposure on Crohn's disease and ulcerative colitis. | Gao L et al. | β | 2025 | β |
| Green Turtle Conservation in the Genomic Era-Monitoring an Endangered Mediterranean Population and Its Breeding Habits. | Ohana T et al. | β | 2025 | β |
| GRPa-PRS: A risk stratification method to identify genetically-regulated pathways in polygenic diseases. | Li X et al. | β | 2025 | β |
| GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. | Dand N et al. | β | 2025 | β |
| Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. | Spargo TP et al. | β | 2025 | β |
| High Imputation Accuracy Can Be Achieved Using a Small Reference Panel in a Natural Population With Low Genetic Diversity. | Tan HZ et al. | β | 2025 | β |
| High-recombining genomic regions affect demography inference based on ancestral recombination graphs. | Ishigohoka J et al. | β | 2025 | β |
| High-resolution genome assembly and population genetic study of the endangered maple <i>Acer pentaphyllum</i> (Sapindaceae): implications for conservation strategies. | Li X et al. | β | 2025 | β |
| Host and environmental determinants of human milk oligosaccharides and microbiota in the Lifelines NEXT cohort. | Spreckels JE et al. | β | 2025 | β |
| How social and economic policies have affected the genome of mezcal agaves: The contrasting stories of Bacanora and EspadΓn. | Klimova A et al. | β | 2025 | β |
| HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement. | Farashi S et al. | β | 2025 | β |
| Human LY9 governs CD4<sup>+</sup> T cell IFN-Ξ³ immunity to <i>Mycobacterium tuberculosis</i>. | Ogishi M et al. | β | 2025 | β |
| Human Population Genetic History and Evolutionary Dynamics on the Eastern Tibetan Plateau. | He G et al. | β | 2025 | β |
| Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases. | Bhak Y et al. | β | 2025 | β |
| Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses. | Willett JDS et al. | β | 2025 | β |
| Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling. | Sunny S et al. | β | 2025 | β |
| Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing. | Song R et al. | β | 2025 | β |
| Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities. | Loesch DP et al. | β | 2025 | β |
| Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease. | Maillard A et al. | β | 2025 | β |
| Identity by descent and local ancestry mapping of HCV spontaneous clearance in populations of diverse ancestries. | Yu Z et al. | β | 2025 | β |
| Impacts of reproductive systems on grapevine genome and breeding. | Xiao H et al. | β | 2025 | β |
| Incipient Range Expansion of Green Turtles in the Mediterranean. | MarΓn-Capuz G et al. | β | 2025 | β |
| Independent inheritance of cognition and bipolar disorder in a family sample. | D'Amico A et al. | β | 2025 | β |
| Independent origins and non-parallel selection signatures of triclabendazole resistance in Fasciola hepatica. | Choi YJ et al. | β | 2025 | β |
| Inferring Distant Relationships From Dense SNP Data Utilizing Two Genealogy Algorithms. | Lin X et al. | β | 2025 | β |
| Insights from the Biorepository and Integrative Genomics pediatric resource. | Buonaiuto S et al. | β | 2025 | β |
| Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning. | Chen J et al. | β | 2025 | β |
| Integrating population genomics and environmental data to predict adaptation to climate change in post-bottleneck Tibetan macaques. | Teng Y et al. | β | 2025 | β |
| Integrating SNP data to reveal the adaptive selection features of goat populations in extreme environments. | Wang W et al. | β | 2025 | β |
| Integration of epigenomic and genomic data to predict residual feed intake and the feed conversion ratio in dairy sheep via machine learning algorithms. | Fonseca PAS et al. | β | 2025 | β |
| Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk. | Ketkar S et al. | β | 2025 | β |
| Intronic hexanucleotide repeat expansion in <i>TYMS</i> in monozygotic twins with congenital progressive universal melanosis. | Kanchanasutthiyakorn S et al. | β | 2025 | β |
| Investigating the demographic history of Sindhi population inhabited in West Coast India. | Kumar L et al. | β | 2025 | β |
| Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders. | Wootton O et al. | β | 2025 | β |
| Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions. | Wei A et al. | β | 2025 | β |
| Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. | Kobren SN et al. | β | 2025 | β |
| Kinship clustering within an ecologically diverse killer whale metapopulation. | Baumgartner CD et al. | β | 2025 | β |
| Kinship Decouple and Phenotype Selection (KDPS): a tool for phenotype-aware decoupling of related subjects. | Gu W et al. | β | 2025 | β |
| KinshipLR: software development and application for complex kinship testing in forensic genetics. | Zhang X et al. | β | 2025 | β |
| Landscape and Climate-Associated Selection in the Native and Widespread Bumblebee, Bombus terrestris. | Kardum Hjort C et al. | β | 2025 | β |
| Large-scale copy number variant analysis in genes linked to ParkinsonΒ΄s disease. | Landoulsi Z et al. | β | 2025 | β |
| Large-scale exome sequencing identified 18 novel genes for neuroticism in 394,005 UK-based individuals. | Wu XR et al. | β | 2025 | β |
| Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People. | He G et al. | β | 2025 | β |
| LCORL and STC2 Variants Increase Body Size and Growth Rate in Cattle and Other Animals. | Bai F et al. | β | 2025 | β |
| Leveraging functional annotations to map rare variants associated with Alzheimer disease with gruyere. | Das A et al. | β | 2025 | β |
| Leveraging haplotype information in heritability estimation and polygenic prediction. | Meisner J et al. | β | 2025 | β |
| Linear and non-linear proteome-wide association studies provide novel insight into venous thromboembolism. | Kong Y et al. | β | 2025 | β |
| Liver molecular networks associated with drinking behavior in nonhuman primates. | Cox LA et al. | β | 2025 | β |
| Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL. | Singh A et al. | β | 2025 | β |
| Long-Chain Polysaturated Fatty Acid in Atrial Fibrillation-Associated Stroke: Lipidomic-GWAS Study. | Jung Y et al. | β | 2025 | β |
| Longitudinally stable T cell function and innate immune activation distinguish healthy adult immunotypes. | Smithmyer ME et al. | β | 2025 | β |
| Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques. | Ray K et al. | β | 2025 | β |
| <i>APC</i> I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites. | Allen S et al. | β | 2025 | β |
| Major-depressive-disorder-associated dysregulation of ZBTB7A in orbitofrontal cortex promotes astrocyte-mediated stress susceptibility. | Fulton SL et al. | β | 2025 | β |
| Mapping the microRNA landscape in the older adult brain and its genetic contribution to neuropsychiatric conditions. | Vattathil SM et al. | β | 2025 | β |
| Mating system of free-ranging domestic dogs and its consequences for dog evolution. | Car C et al. | β | 2025 | β |
| Mediating Role of Trauma Connecting Psychiatric Family History and Adolescent Mental Health. | Chaiyachati BH et al. | β | 2025 | β |
| Metabolic reaction fluxes as amplifiers and buffers of risk alleles for coronary artery disease. | Foguet C et al. | β | 2025 | β |
| Methylome Profiling of a Deuterostome Invertebrate Using Oxford Nanopore Technology (ONT). | Kwong SLT et al. | β | 2025 | β |
| Microbiome composition shapes temperature tolerance in a Hawaiian picture-winged Drosophila. | Price DK et al. | β | 2025 | β |
| Mining for gene-environment and gene-gene interactions: parametric and non-parametric tests for detecting variance quantitative trait loci. | Lin WY | β | 2025 | β |
| Missense variants in FRS3 affect body mass index in populations of diverse ancestries. | Jonsdottir AB et al. | β | 2025 | β |
| Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations. | Chou TH et al. | β | 2025 | β |
| Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3. | Mei L et al. | β | 2025 | β |
| Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions. | Wingo AP et al. | β | 2025 | β |
| Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci. | Blue EE et al. | β | 2025 | β |
| Multi-domain rule-based phenotyping algorithms enable improved GWAS signal. | Newbury A et al. | β | 2025 | β |
| Multimodal analysis stratifies genetic susceptibility and reveals the pathogenic mechanism of kidney injury in diabetic nephropathy. | Jiang S et al. | β | 2025 | β |
| Multiomic single-cell profiling identifies critical regulators of postnatal brain. | Clarence T et al. | β | 2025 | β |
| Multi-omic spatial effects on high-resolution AI-derived retinal thickness. | Jackson VE et al. | β | 2025 | β |
| Multi-organ metabolome biological age implicates cardiometabolic conditions and mortality risk. | MULTI consortium et al. | β | 2025 | β |
| Multi-organ MRI digitizes biological aging clocks across proteomics, metabolomics, and genetics | The MULTI Consortium et al. | β | 2025 | β |
| Multispecies pangenomes reveal a pervasive influence of population size on structural variation. | Edwards SV et al. | β | 2025 | β |
| Museum genomics suggests long-term population decline in a putatively extinct bumble bee. | Schweizer RM et al. | β | 2025 | β |
| Must Epidemiologically Impactful Vector Control Interventions Disrupt Mosquito Population Structure? A Case Study of a Cluster-Randomised Controlled Trial. | Dennis TPW et al. | β | 2025 | β |
| Mutations of the CEACAM5 Gene PELPK Motif in Patients With Appendiceal or Colorectal Adenocarcinoma. | Cristaudo AT et al. | β | 2025 | β |
| Nested Admixture During and After the Trans-Atlantic Slave Trade on the Island of SΓ£o TomΓ©. | Ciccarella M et al. | β | 2025 | β |
| Neuroanatomical dimensions in major depression linked to cognition, adverse life events, self-harm, metabolomics and genetics. | Xiao W et al. | β | 2025 | β |
| Neuroimaging endophenotypes reveal underlying mechanisms and genetic factors contributing to progression and development of four brain disorders. | Wen J et al. | β | 2025 | β |
| Neuropsychiatric polygenic scores are weak predictors of professional categories. | Voloudakis G et al. | β | 2025 | β |
| No Evidence of Interaction Between FADS2 Genotype and Breastfeeding on Cognitive or Other Traits in the UK Biobank. | Centorame G et al. | β | 2025 | β |
| Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese. | Zhou D et al. | β | 2025 | β |
| Novel biallelic MEI1 variants cause female infertility characterized by multiple pronuclei formation and aberrant embryonic development. | Jiao X et al. | β | 2025 | β |
| Old vs. new local ancestry inference in HCHS/SOL: a comparative study. | Chen X et al. | β | 2025 | β |
| On the analysis of metabolite quantitative trait loci: Impact of different data transformations and study designs. | Lee S et al. | β | 2025 | β |
| On the origin of an insular hybrid butterfly lineage. | Boman J et al. | β | 2025 | β |
| Pain in idiopathic scoliosis not associated with known genetic variants for pain. | Cheng T et al. | β | 2025 | β |
| Parent-of-origin effects on complex traits in up to 236,781 individuals. | Hofmeister RJ et al. | β | 2025 | β |
| Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations. | He G et al. | β | 2025 | β |
| PISAD: reference-free intraspecies sample anomalies detection tool based on k-mer counting. | Xu Z et al. | β | 2025 | β |
| PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans. | Li Q et al. | β | 2025 | β |
| Pleiotropic and sex-specific genetic mechanisms of circulating metabolic markers. | van der Meer D et al. | β | 2025 | β |
| Polygenic and developmental profiles of autism differ by age at diagnosis. | Zhang X et al. | β | 2025 | β |
| Polygenic height prediction for the Han Chinese in Taiwan. | Chang CH et al. | β | 2025 | β |
| Polygenic modifiers impact penetrance and expressivity in telomere biology disorders. | Poeschla M et al. | β | 2025 | β |
| Polygenic scores and their applications in kidney disease. | Khan A et al. | β | 2025 | β |
| Polygenic scores of Core 1 Alzheimer's disease biomarkers predict early cognitive and pathological change. | Xu Y et al. | β | 2025 | β |
| Population genomic analysis unravels the repeated trait evolution after the centric origin of African cultivated rice. | Luo W et al. | β | 2025 | β |
| Population Genomic Insights Into Recent Nutria (<i>Myocastor coypus</i>) Invasion Dynamics. | Ahrens KD et al. | β | 2025 | β |
| Population genomic landscapes and insights for conservation of the critically endangered island-endemic Chinese pangolin in Taiwan. | Zhai T et al. | β | 2025 | β |
| Population genomics analyses reveal the role of hybridization in the rapid invasion of fall armyworm. | Wang X et al. | β | 2025 | β |
| Population Genomics of Giant Mice from the Faroe Islands: Hybridization, Colonization, and a Novel Challenge to Identifying Genomic Targets of Selection. | Payseur BA et al. | β | 2025 | β |
| Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs. | Tian Y et al. | β | 2025 | β |
| Population genomics reveals strong impacts of genetic drift without purging and guides conservation of bull and giant kelp. | Bemmels JB et al. | β | 2025 | β |
| Population histories of the Indigenous Adivasi and Sinhalese from Sri Lanka using whole genomes. | Urban Aragon JA et al. | β | 2025 | β |
| Population History Across Timescales in an Urban Archipelago. | Howell EK et al. | β | 2025 | β |
| Population history and admixture of the Fulani people from the Sahel. | Fortes-Lima CA et al. | β | 2025 | β |
| Population-scale cross-disorder atlas of the human prefrontal cortex at single-cell resolution. | Fullard JF et al. | β | 2025 | β |
| Precise estimation of in-depth relatedness in biobank-scale datasets using deepKin. | Zhang QX et al. | β | 2025 | β |
| Predicting expression-altering promoter mutations with deep learning. | Jaganathan K et al. | β | 2025 | β |
| Predicting Genetic Relatedness from Low-Coverage Sequencing Data of Human and Animal Genomes Using Various Algorithms. | Lin X et al. | β | 2025 | β |
| Proteome-wide association studies for blood lipids and comparison with transcriptome-wide association studies. | Zhang D et al. | β | 2025 | β |
| Psychiatric disorders and following risk of chronic kidney disease: a prospective cohort study from UK Biobank. | Li H et al. | β | 2025 | β |
| py_ped_sim: a flexible forward pedigree and genetic simulator for complex family pedigree analysis. | Guardado M et al. | β | 2025 | β |
| Quantile-specific confounding: correction for subtle population stratification via quantile regression. | Wang C et al. | β | 2025 | β |
| Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. | Li D et al. | β | 2025 | β |
| Rapid Evolution in Action: Environmental Filtering Supports Coral Adaptation to a Hot, Acidic, and Deoxygenated Extreme Habitat. | Leiva C et al. | β | 2025 | β |
| Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis. | Charng WL et al. | β | 2025 | β |
| Rare-variant association studies: When are aggregation tests more powerful than single-variant tests? | Bose D et al. | β | 2025 | β |
| Recent Divergence and Microgeographic Genetic Structure in an Endangered Australian Songbird: The Southern Black-Throated Finch. | Hooper DM et al. | β | 2025 | β |
| Recent habitat modification of a tropical dry forest hotspot drives population genetic divergence in the Mexican leaf frog: a landscape genetics approach. | Covarrubias S et al. | β | 2025 | β |
| Recurrent Hybridisations During Diversification of One Rhododendron Species Complex. | Wang J et al. | β | 2025 | β |
| Refining fine-mapping: Effect sizes and regional heritability. | Benner C et al. | β | 2025 | β |
| Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data. | Gaviria-Sabogal CC et al. | β | 2025 | β |
| Refining the generation, interpretation and application of multi-organ, multi-omics biological aging clocks. | Wen J | β | 2025 | β |
| Repeated loss of function at HD mating-type genes and of recombination in anther-smut fungi. | Lucotte EA et al. | β | 2025 | β |
| Repeated Successful Nest Sharing and Cooperation Between Western Kingbirds (<i>Tyrannus verticalis</i>) and a Female Western KingbirdβΓβScissor-Tailed Flycatcher (<i>T. forficatus</i>) Hybrid. | Worm AJ et al. | β | 2025 | β |
| Revealing extensive inbreeding and less efficient purging of deleterious mutations in wild Amur tigers in China. | Lan T et al. | β | 2025 | β |
| Schizotypy, Psychosis Proneness, and the Polygenic Risk for Schizophrenia and Resilience. | Meller T et al. | β | 2025 | β |
| Secure and federated genome-wide association studies for biobank-scale datasets. | Cho H et al. | β | 2025 | β |
| Selection signatures in Gir and Holstein cattle. | Braga LG et al. | β | 2025 | β |
| Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation. | Warshauer EM et al. | β | 2025 | β |
| Sequence diversity lost in early pregnancy. | Arnadottir GA et al. | β | 2025 | β |
| Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results. | Hecker J et al. | β | 2025 | β |
| Sex-Biased Admixture Followed by Isolation and Adaptive Evolution Shaped the Genomic and Blood Pressure Diversity of the LopNur People. | Wen J et al. | β | 2025 | β |
| Shechi: A Secure Distributed Computation Compiler Based on Multiparty Homomorphic Encryption. | SmajloviΔ H et al. | β | 2025 | β |
| Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies. | Kodate S et al. | β | 2025 | β |
| Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits. | Wilson EP et al. | β | 2025 | β |
| SLC45A4 is a pain gene encoding a neuronal polyamine transporter. | Middleton SJ et al. | β | 2025 | β |
| Soyasaponin and vertical microbial transmission: Maternal effect on the intestinal development and health of early chicks. | Gao M et al. | β | 2025 | β |
| SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants. | Wang Y et al. | β | 2025 | β |
| Statistical modelling of an outcome variable with integrated multi-omics. | Li H et al. | β | 2025 | β |
| Structural variants linked to Alzheimer's disease and other common age-related clinical and neuropathologic traits. | Vialle RA et al. | β | 2025 | β |
| Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects. | Wang H et al. | β | 2025 | β |
| Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research. | Gouveia MH et al. | β | 2025 | β |
| Successful Traceability of Wildlife Samples Contributes to Wildlife Conservation: A Case Study of Tracing the Snub-Nosed Monkey (<i>Rhinopithecus</i> spp.). | Wang X et al. | β | 2025 | β |
| Systematic bias in malaria parasite relatedness estimation. | Mehra S et al. | β | 2025 | β |
| Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease. | Martin-Geary AC et al. | β | 2025 | β |
| Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. | Chapman NH et al. | β | 2025 | β |
| Tau pathway-based gene analysis on PET identifies CLU and FYN in a Korean cohort. | Yi D et al. | β | 2025 | β |
| The APOE Ξ΅4 allele affects the survival of patients with Parkinson's disease independent of dementia. | Wang Z et al. | β | 2025 | β |
| The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CΓDIGO): building local capacity in genomics and bioinformatics. | MariΓ±o-RamΓrez L et al. | β | 2025 | β |
| The differential impact of abdominal obesity on fasting and non-fasting triglycerides and cardiovascular risk. | Christiansen MR et al. | β | 2025 | β |
| The effects of runs-of-homozygosity on pig domestication and breeding. | Tao L et al. | β | 2025 | β |
| The evolution and convergence of mutation spectra across mammals. | Talenti A et al. | β | 2025 | β |
| The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance. | Medaglia S et al. | β | 2025 | β |
| The Genetic Architecture of the Human Corpus Callosum and its Subregions. | Bhatt RR et al. | β | 2025 | β |
| The genetics of motor neuron disease in New Zealand. | Mrkela M et al. | β | 2025 | β |
| The Genomic Imprint of Chromosomal Inversions and Demographic History in Island Populations of Deer Mice. | Howell EK et al. | β | 2025 | β |
| The haplotype-resolved genome assembly of an ancient citrus variety provides insights into the domestication history and fruit trait formation of loose-skin mandarins. | Yin M et al. | β | 2025 | β |
| The Impact of Administrative Districts and Urban Landscape on the Dispersal of Aedes aegypti via Genetic Differentiation. | Huang CG et al. | β | 2025 | β |
| The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra. | Garcia-Salinas OI et al. | β | 2025 | β |
| The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa. | Reynolds AW et al. | β | 2025 | β |
| The influence of fetal sex on maternal blood pressure in pregnancy. | Decina CS et al. | β | 2025 | β |
| The interplay among space, environment, and gene flow drives genetic differentiation in endemic Baja California Agave sobria subspecies. | Klimova A et al. | β | 2025 | β |
| The left amygdala is genetically sexually-dimorphic: multi-omics analysis of structural MRI volumes. | Gui Y et al. | β | 2025 | β |
| The LRRK2 p.L1795F variant causes Parkinson's disease in the European population. | Lange LM et al. | β | 2025 | β |
| The neuronal chromatin landscape in brains from individuals with schizophrenia is linked to early fetal development. | Girdhar K et al. | β | 2025 | β |
| The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies. | Yang HC et al. | β | 2025 | β |
| Tracing the Genetic Heritage of the Kirgiz People: Dual-Wave Admixture and Ancestry-Biased Adaptation. | Chen S et al. | β | 2025 | β |
| Transcriptome-wide association study of alternative polyadenylation identifies susceptibility genes in non-small cell lung cancer. | Xu X et al. | β | 2025 | β |
| Transferability of polygenic risk scores for metabolic and cardiovascular traits in an underrepresented population. | Pasookhush P et al. | β | 2025 | β |
| Uncovering Key Genes Associated with the Short-Winged Trait in Faba Bean (<i>Vicia faba</i> L.) Through Re-Sequencing and Genome-Wide Association Studies (GWASs). | Yu H et al. | β | 2025 | β |
| Uncovering the architecture of production-driven introgression in Cinisara cattle breed. | Floridia V et al. | β | 2025 | β |
| Uncovering the Genetic Structure of the Sekler Population in Transylvania Through Genome-Wide Autosomal Data. | SzabΓ³ A et al. | β | 2025 | β |
| Understanding the Past to Preserve the Future: Genomic Insights Into the Conservation Management of a Critically Endangered Waterbird. | Chen Q et al. | β | 2025 | β |
| Understanding the potential contribution of polygenic risk scores to the prediction of gestational and type 2 diabetes in women from British Pakistani and Bangladeshi groups: a cohort study in Genes and Health. | ZΓΆllner J et al. | β | 2025 | β |
| Unique demographic history and population substructure among the Coorgs of Southern India. | Mukhopadhyay A et al. | β | 2025 | β |
| Unraveling the genetic landscape of susceptibility to multiple primary cancers. | Middha P et al. | β | 2025 | β |
| Unraveling the genetic link: causal effects and PRS predictions of adiposity-related health conditions in East Asian individuals. | Lin YJ 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 |
| When African and European Lineages Meet: The Genetic Landscape of Honey Bees in Argentina. | Avalos A et al. | β | 2025 | β |
| Whole genome resequencing reveals genetic diversity, population structure, and selection signatures in local duck breeds. | Ren P et al. | β | 2025 | β |
| Whole-genome resequencing unveils the phylogeographic coevolution of Oncomelania hupensis with Yangtze River dynamics in China. | Duan L et al. | β | 2025 | β |
| Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer's disease and a cumulative effects model for risk liability. | Kim JP et al. | β | 2025 | β |
| Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene. | Sonehara K et al. | β | 2025 | β |
| Whole methylomes reveal high-altitude-associated methylation at hypoxia and pigmentation genes in South American Indigenous populations. | Pryor Y et al. | β | 2025 | β |
| Wide-scale geographical analysis of genetic ancestry in the South African Coloured population. | Lankheet I et al. | β | 2025 | β |
| A brief guide to analyzing expression quantitative trait loci. | Ko BS et al. | β | 2024 | β |
| A clustering approach to improve our understanding of the genetic and phenotypic complexity of chronic kidney disease. | Eoli A et al. | β | 2024 | β |
| A comparative study of structural variant calling in WGS from Alzheimer's disease families. | Malamon JS et al. | β | 2024 | β |
| A consensus-based classification workflow to determine genetically inferred ancestry from comprehensive genomic profiling of patients with solid tumors. | Wallen ZD et al. | β | 2024 | β |
| Adaptive functions of structural variants in human brain development. | Ding W et al. | β | 2024 | β |
| A dominant missense variant within LMBR1 related to equine polydactyly. | Luan Y et al. | β | 2024 | β |
| A Fast, Reproducible, High-throughput Variant Calling Workflow for Population Genomics. | Mirchandani CD et al. | β | 2024 | β |
| African bushpigs exhibit porous species boundaries and appeared in Madagascar concurrently with human arrival. | Balboa RF et al. | 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 harmonized public resource of deeply sequenced diverse human genomes. | Koenig Z et al. | β | 2024 | β |
| A large structural variant collection in Holstein cattle and associated database for variant discovery, characterization, and application. | Grant JR et al. | β | 2024 | β |
| A multi-ancestry genome-wide association study in type 1 diabetes. | Michalek DA et al. | β | 2024 | β |
| A multi-regional human brain atlas of chromatin accessibility and gene expression facilitates promoter-isoform resolution genetic fine-mapping. | Dong P et al. | β | 2024 | β |
| An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns. | Deal M et al. | β | 2024 | β |
| Analysis of genotyping data reveals the unique genetic diversity represented by the breeds of sheep native to the United Kingdom. | Kerr E et al. | β | 2024 | β |
| Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis. | BΓ‘nfai Z et al. | β | 2024 | β |
| An analysis of the accuracy of retrospective birth location recall using sibling data. | von Hinke S et al. | β | 2024 | β |
| An archaic HLA class I receptor allele diversifies natural killer cell-driven immunity in First Nations peoples of Oceania. | Loh L et al. | β | 2024 | β |
| A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. | Singh AK et al. | β | 2024 | β |
| Approaches to estimate bidirectional causal effects using Mendelian randomization with application to body mass index and fasting glucose. | Zou J et al. | β | 2024 | β |
| A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy. | Polenberg A et al. | β | 2024 | β |
| A sex chromosome polymorphism maintains divergent plumage phenotypes between extensively hybridizing yellowhammers (Emberiza citrinella) and pine buntings (E. leucocephalos). | Nikelski E et al. | β | 2024 | β |
| Assessing fine-scale pondscape connectivity with amphibian eyes: An integrative approach using genomic and capture-mark-recapture data. | Reyes-Moya I et al. | β | 2024 | β |
| Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts. | Teixeira SK et al. | β | 2024 | β |
| Assisting the analysis of insertions and deletions using regional allele frequencies. | Krishna Murthy SB et al. | β | 2024 | β |
| Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis. | Yu H et al. | β | 2024 | β |
| Associations between diabetes-related genetic risk scores and residual beta cell function in type 1 diabetes: the GUTDM1 study. | Fuhri Snethlage CM et al. | β | 2024 | β |
| Associations Between Mosaic Loss of Sex Chromosomes and Incident Hospitalization for Atrial Fibrillation in the United Kingdom. | Lim J et al. | β | 2024 | β |
| Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. | Orimo K et al. | β | 2024 | β |
| Asthma exacerbations and eosinophilia in the UK Biobank: a genome-wide association study. | Edris A et al. | β | 2024 | β |
| A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. | Jermy B et al. | β | 2024 | β |
| BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups. | Breton G et al. | β | 2024 | β |
| Benchmarking kinship estimation tools for ancient genomes using pedigree simulations. | AktΓΌrk Ε et al. | β | 2024 | β |
| Bioarchaeology aids the cultural understanding of six characters in search of their agency (Tarquinia, ninth-seventh century BC, central Italy). | Bagnasco G et al. | β | 2024 | β |
| Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control. | Betschart RO et al. | β | 2024 | β |
| Brain aging patterns in a large and diverse cohort of 49,482 individuals. | Yang Z et al. | β | 2024 | β |
| Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation. | Beck JJ et al. | β | 2024 | β |
| Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine. | Wiley LK et al. | β | 2024 | β |
| Cardiovascular Disease, Genetic Susceptibility, and Risk of Psychiatric Disorders and Suicide Attempt: A Community-Based Matched Cohort Study Based on the UK Biobank. | Yang J et al. | β | 2024 | β |
| Case-control association study between polygenic risk score and COVID-19 severity in a Russian population using low-pass genome sequencing. | Nostaeva A et al. | β | 2024 | β |
| Case report: Second report of neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>. | Li W et al. | β | 2024 | β |
| Causal effects of cardiovascular health on five epigenetic clocks. | Sung HL et al. | β | 2024 | β |
| Causal Estimation of Long-term Intervention Cost-effectiveness Using Genetic Instrumental Variables: An Application to Cancer. | Dixon P et al. | β | 2024 | β |
| Characterization of genetic variants of GIPR reveals a contribution of Ξ²-arrestin to metabolic phenotypes. | Kizilkaya HS et al. | β | 2024 | β |
| Characterizing feral swine movement across the contiguous United States using neural networks and genetic data. | Giglio RM et al. | β | 2024 | β |
| Characterizing genetic variation on the Z chromosome in Schistosoma japonicum reveals host-parasite co-evolution. | Zhou A et al. | β | 2024 | β |
| Child-to-adult body size change and risk of type 2 diabetes and cardiovascular disease. | Carrasquilla GD et al. | β | 2024 | β |
| Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia. | Head ST et al. | β | 2024 | β |
| Clonal Hematopoiesis of Indeterminate Potential With Loss of <i>Tet2</i> Enhances Risk for Atrial Fibrillation Through <i>Nlrp3</i> Inflammasome Activation. | Lin AE et al. | β | 2024 | β |
| Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis. | Zuriaga MA et al. | β | 2024 | β |
| Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss. | Sonehara K et al. | β | 2024 | β |
| Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. | Qiao L et al. | β | 2024 | β |
| Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank. | Oliveri A et al. | β | 2024 | β |
| Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. | Fehlings DL et al. | β | 2024 | β |
| Conservation genomics analysis reveals recent population decline and possible causes in bumblebee Bombus opulentus. | Sang H et al. | β | 2024 | β |
| Conservation genomics of the wild pumpkin Cucurbita radicans in Central Mexico: The influence of a changing environment on the genetic diversity and differentiation of a rare species. | Gasca-Pineda J et al. | β | 2024 | β |
| Continent-wide genomic analysis of the African buffalo (Syncerus caffer). | Talenti A et al. | β | 2024 | β |
| Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability. | Schmilovich Z et al. | β | 2024 | β |
| Copy number variants underlie major selective sweeps in insecticide resistance genes in Anopheles arabiensis. | Lucas ER et al. | β | 2024 | β |
| Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort. | Barr PB et al. | β | 2024 | β |
| Correlates of suicidal behaviors and genetic risk among United States veterans with schizophrenia or bipolar I disorder. | Bigdeli TB et al. | β | 2024 | β |
| Deciphering maternal-fetal cross-talk in the human placenta during parturition using single-cell RNA sequencing. | Garcia-Flores V et al. | β | 2024 | β |
| Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration. | Farashi S et al. | β | 2024 | β |
| Deep genetic substructure within bonobos. | Han S et al. | β | 2024 | β |
| Deep history of cultural and linguistic evolution among Central African hunter-gatherers. | Padilla-Iglesias C et al. | β | 2024 | β |
| Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample. | Cinciripini PM et al. | β | 2024 | β |
| Definition of metafounders based on population structure analysis. | Anglhuber C et al. | β | 2024 | β |
| Demographic and conservation genomic assessment of the threatened marbled teal (<i>Marmaronetta angustirostris</i>). | Ortego J et al. | β | 2024 | β |
| Descriptor: <i>Synthetic Genomic Dataset With Diverse Ancestry (SynGen6)</i>. | Wang X et al. | β | 2024 | β |
| Detecting gene-environment interactions from multiple continuous traits. | Lin WY | β | 2024 | β |
| Determining lineages between individuals with high-density mitochondrial and Y-chromosomal single-nucleotide polymorphisms. | Chiao A et al. | β | 2024 | β |
| Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes. | Bowles KR et al. | β | 2024 | β |
| Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer. | Huang Q et al. | β | 2024 | β |
| Differences between mates at the TLR1Lb locus are associated with lower reproductive success in a long-lived seabird. | Gousy-Leblanc M et al. | β | 2024 | β |
| Differentiated genomic footprints suggest isolation and long-distance migration of Hmong-Mien populations. | He G et al. | β | 2024 | β |
| Disentangling Accelerated Cognitive Decline from the Normal Aging Process and Unraveling Its Genetic Components: A Neuroimaging-Based Deep Learning Approach. | Dai Y et al. | β | 2024 | β |
| Disentangling heterogeneity in substance use disorder: Insights from genome-wide polygenic scores. | Vilar-RibΓ³ L et al. | β | 2024 | β |
| Disentangling potential causal effects of educational duration on well-being, and mental and physical health outcomes. | van de Weijer MP 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 |
| Disentangling the link between maternal influences on birth weight and disease risk in 36,211 genotyped mother-child pairs. | Leinonen JT et al. | β | 2024 | β |
| Dissecting the polygenic contribution of attention-deficit/hyperactivity disorder and autism spectrum disorder on school performance by their relationship with educational attainment. | Cabana-DomΓnguez J et al. | β | 2024 | β |
| Distinct positions of genetic and oral histories: Perspectives from India. | Biddanda A et al. | β | 2024 | β |
| Distinguished biological adaptation architecture aggravated population differentiation of Tibeto-Burman-speaking people. | Sun Y et al. | β | 2024 | β |
| Distinguishing recrudescence from reinfection in lymphatic filariasis. | Choi YJ et al. | β | 2024 | β |
| Divergent Selection in Low Recombination Regions Shapes the Genomic Islands in Two Incipient Shorebird Species. | Zhou W et al. | β | 2024 | β |
| Diving into broad-scale and high-resolution population genomics to decipher drivers of structure and climatic vulnerability in a marine invertebrate. | Bourret A et al. | β | 2024 | β |
| DNA identification of monozygotic twins. | Hwa HL et al. | β | 2024 | β |
| Does coevolution in refugia drive mimicry in bumble bees? Insights from a South Asian mimicry group. | Cui J et al. | β | 2024 | β |
| Donor genetic burden for cerebrovascular risk and kidney transplant outcome. | Collins KE et al. | β | 2024 | β |
| Drivers of genomic diversity and phenotypic development in early phases of domestication in Hermetia illucens. | Hull KL et al. | β | 2024 | β |
| Ecological characteristics explain neutral genetic variation of three coastal sparrow species. | Maxwell LM et al. | β | 2024 | β |
| Ecological genetics of isolated loach populations indicate compromised adaptive potential. | Wang X et al. | β | 2024 | β |
| Effect of polygenic scores of telomere length alleles on telomere length in newborns and parents. | Lee Y et al. | β | 2024 | β |
| Effects of brain microRNAs in cognitive trajectory and Alzheimer's disease. | Vattathil SM et al. | β | 2024 | β |
| Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. | Huguet G et al. | β | 2024 | β |
| Effects of parental socioeconomic status on offspring's fetal neurodevelopment. | Mathan J et al. | β | 2024 | β |
| Efficacy of federated learning on genomic data: a study on the UK Biobank and the 1000 Genomes Project. | Kolobkov D et al. | β | 2024 | β |
| Epistatic Features and Machine Learning Improve Alzheimer's Disease Risk Prediction Over Polygenic Risk Scores. | Hermes S 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 |
| Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070Gβ>βA (p.R357Q) variant. | Chen D et al. | β | 2024 | β |
| Estimating disease heritability from complex pedigrees allowing for ascertainment and covariates. | Speed D et al. | β | 2024 | β |
| Estimation of inbreeding and kinship coefficients via latent identity-by-descent states. | Guan Y et al. | β | 2024 | β |
| Evaluating the relationship between glycemic control and bone fragility within the UK Biobank: observational and one-sample Mendelian randomization analyses. | Ghatan S et al. | β | 2024 | β |
| Evaluation of Four Forensic Investigative Genetic Genealogy Analysis Approaches with Decreased Numbers of SNPs and Increased Genotyping Errors. | Zang Y et al. | β | 2024 | β |
| Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. | Urpa L et al. | β | 2024 | β |
| Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using <i>k</i>-Fold Cross-Validation. | Osterman MD et al. | β | 2024 | β |
| Examining the role of common variants in rare neurodevelopmental conditions. | Huang QQ et al. | β | 2024 | β |
| Exome sequencing identifies novel genetic variants associated with varicose veins. | Zhang DD et al. | β | 2024 | β |
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. | Copeland I et al. | β | 2024 | β |
| Exome sequencing of 1190 non-syndromic clubfoot cases reveals <i>HOXD12</i> as a novel disease gene. | Charng WL et al. | β | 2024 | β |
| Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts. | GarzΓ³n RodrΓguez N et al. | β | 2024 | β |
| Extending DeepTrio for sensitive detection of complex <i>de novo</i> mutation patterns. | Brand F et al. | β | 2024 | β |
| Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases. | Yuan K et al. | β | 2024 | β |
| Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences. | Moya R et al. | β | 2024 | β |
| Full-length RNA transcript sequencing traces brain isoform diversity in house mouse natural populations. | Zhang W et al. | β | 2024 | β |
| Gelada genomes highlight events of gene flow, hybridisation and local adaptation that track past climatic changes. | Caldon M et al. | β | 2024 | β |
| Gene expression response under thermal stress in two Hawaiian corals is dominated by ploidy and genotype. | Chille EE et al. | β | 2024 | β |
| Gene-gene interaction analysis for age at onset of bipolar disorder in a Korean population. | Park M et al. | β | 2024 | β |
| Genetic and functional analysis of Raynaud's syndrome implicates loci in vasculature and immunity. | Tervi A et al. | β | 2024 | β |
| Genetic approaches reveal a healthy population and an unexpectedly recent origin for an isolated desert spring fish. | Sidlauskas BL et al. | β | 2024 | β |
| Genetic Architecture and Clinical Outcomes of Combined Lipid Disturbances. | Gilliland T et al. | β | 2024 | β |
| Genetic architecture distinguishes tinnitus from hearing loss. | Clifford RE et al. | β | 2024 | β |
| Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people. | Koyanagi YN et al. | β | 2024 | β |
| Genetic architecture of routinely acquired blood tests in a British South Asian cohort. | Jacobs BM et al. | β | 2024 | β |
| Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences. | Burren OS et al. | β | 2024 | β |
| Genetic architecture reconciles linkage and association studies of complex traits. | Sidorenko J et al. | β | 2024 | β |
| Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype. | Crayle JI et al. | β | 2024 | β |
| Genetic basis and expression of ventral colour in polymorphic common lizards. | Recknagel H et al. | β | 2024 | β |
| Genetic basis of right and left ventricular heart shape. | Burns R et al. | β | 2024 | β |
| Genetic contribution to the comorbidity between attention-deficit/hyperactivity disorder and substance use disorders. | Koller D et al. | β | 2024 | β |
| Genetic differentiation and precolonial Indigenous cultivation of hazelnut (<i>Corylus cornuta</i>, Betulaceae) in Western North America. | Armstrong CG et al. | β | 2024 | β |
| Genetic influence on vascular smooth muscle cell apoptosis. | McVey DG et al. | β | 2024 | β |
| Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression. | Zhukovsky P et al. | β | 2024 | β |
| Genetic influences on circulating retinol and its relationship to human health. | Reay WR et al. | β | 2024 | β |
| Genetic legacies of mega-landslides: Cycles of isolation and contact across flank collapses in an oceanic island. | Noguerales V 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 modifiers of body mass index in individuals with cystic fibrosis. | Ling H et al. | β | 2024 | β |
| Genetic mosaic of the Mediterranean fig: comprehensive genomic insights from a gene bank collection. | Bazakos C et al. | β | 2024 | β |
| Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas. | Khan RR et al. | β | 2024 | β |
| Genetic risk accentuates dietary effects on hepatic steatosis, inflammation and fibrosis in a population-based cohort. | Chen VL 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 similarity between relatives provides evidence on the presence and history of assortative mating. | Sunde HF et al. | β | 2024 | β |
| Genetics of flight in spongy moths (Lymantria dispar ssp.): functionally integrated profiling of a complex invasive trait. | Blackburn GS et al. | β | 2024 | β |
| Genome sequences and population genomics provide insights into the demographic history, inbreeding, and mutation load of two 'living fossil' tree species of Dipteronia. | Feng Y et al. | β | 2024 | β |
| Genome sequencing of 'Fuji' apple clonal varieties reveals genetic mechanism of the spur-type morphology. | Cai Y et al. | β | 2024 | β |
| Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans. | Ren M 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 Studies of 3 Distinct Recovery Phenotypes in Mild Ischemic Stroke. | Aldridge CM et al. | β | 2024 | β |
| Genome-wide association study and polygenic risk score analysis for schizophrenia in a Korean population. | Lee D 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 the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations. | Gelernter J et al. | β | 2024 | β |
| Genome-wide association study of traumatic brain injury in U.S. military veterans enrolled in the VA million veteran program. | Merritt VC et al. | β | 2024 | β |
| Genome-wide detections for runs of homozygosity and selective signatures reveal novel candidate genes under domestication in chickens. | Tan X et al. | β | 2024 | β |
| Genome-wide discovery for biomarkers using quantile regression at biobank scale. | Wang C et al. | β | 2024 | β |
| Genome-Wide Patterns of Homozygosity and Heterozygosity and Candidate Genes in Greek Insular and Mainland Native Goats. | Tsartsianidou V et al. | β | 2024 | β |
| Genome-wide SNP assessment of contemporary European red deer genetic structure highlights the distinction of peripheral populations and the main admixture zones in Europe. | Carranza J et al. | β | 2024 | β |
| Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur. | Zhang L et al. | β | 2024 | β |
| Genomic analyses of agronomic traits in tea plants and related <i>Camellia</i> species. | Duan S et al. | β | 2024 | β |
| Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome. | AkΓ§imen F et al. | β | 2024 | β |
| Genomic Consequences of Isolation and Inbreeding in an Island Dingo Population. | Leon-Apodaca AV et al. | β | 2024 | β |
| Genomic Data Characterize Reproductive Ecology Patterns in Michigan Invasive Red Swamp Crayfish (<i>Procambarus clarkii</i>). | Adams NE et al. | β | 2024 | β |
| Genomic data reveal unexpected relatedness between a brown female Eastern Bluebird and her brood. | Schroeder JL et al. | β | 2024 | β |
| Genomic diversity and structure of a Neotropical microendemic fig tree. | Rojas-CortΓ©s ΓP et al. | β | 2024 | β |
| Genomic imputation of ancient Asian populations contrasts local adaptation in pre- and post-agricultural Japan. | Cooke NP et al. | β | 2024 | β |
| Genomic Reconstruction of the Successful Establishment of a Feralized Bovine Population on the Subantarctic Island of Amsterdam. | Gautier M et al. | β | 2024 | β |
| Genomic Reference Resource for African Cattle: Genome Sequences and High-Density Array Variants. | Tijjani A et al. | β | 2024 | β |
| Genomic signatures of inbreeding and mutation load in tree ferns. | Yi H et al. | β | 2024 | β |
| Genomics of post-bottleneck recovery in the northern elephant seal. | Hoelzel AR et al. | β | 2024 | β |
| Genomics Research of Lifetime Depression in the Netherlands: The BIObanks Netherlands Internet Collaboration (BIONIC) Project. | Huider F et al. | β | 2024 | β |
| Genomic tools for early selection among Thoroughbreds and Polo Argentino horses for practicing polo. | Azcona F et al. | β | 2024 | β |
| Genomic variation of European beech reveals signals of local adaptation despite high levels of phenotypic plasticity. | Lazic D et al. | β | 2024 | β |
| Geographical distribution, genetic diversity, and environmental adaptations of dromedary camel breeds in Saudi Arabia. | Ibrahim MA et al. | β | 2024 | β |
| Giraffe lineages are shaped by major ancient admixture events. | Bertola LD et al. | β | 2024 | β |
| GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. | Shade LMP et al. | β | 2024 | β |
| Haplotype-resolved genome and population genomics of the threatened garden dormouse in Europe. | Byerly PA et al. | β | 2024 | β |
| Haplotype-resolved genome assembly and resequencing provide insights into the origin and breeding of modern rose. | Zhang Z et al. | β | 2024 | β |
| Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia). | Sun Y et al. | β | 2024 | β |
| Hyperglycaemia is a causal risk factor for upper limb pathologies. | Green HD et al. | β | 2024 | β |
| Identification and correction for collider bias in a genome-wide association study of diabetes-related heart failure. | Sun YV et al. | β | 2024 | β |
| Identification of shared genetic risks underlying metabolic syndrome and its related traits in the Korean population. | Kim JY et al. | β | 2024 | β |
| Identification of the efficacy of parentage testing based on bi-allelic autosomal single nucleotide polymorphism markers in Taiwanese population. | Chen YC et al. | β | 2024 | β |
| Implementation of Exome Sequencing to Identify Rare Genetic Diseases. | Udupa P et al. | β | 2024 | β |
| Implementation of type 1 diabetes genetic risk screening in children in diverse communities: the Virginia PrIMeD project. | Guertin KA et al. | β | 2024 | β |
| Improving population scale statistical phasing with whole-genome sequencing data. | Wertenbroek R et al. | β | 2024 | β |
| Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank. | Jin W et al. | β | 2024 | β |
| Incidence of Dementia and Alzheimer's Disease, Genetic Susceptibility, and Grip Strength Among Older Adults. | Kim Y et al. | β | 2024 | β |
| Inferring Long-Term and Short-Term Determinants of Genetic Diversity in Honey Bees: Beekeeping Impact and Conservation Strategies. | Leroy T et al. | β | 2024 | β |
| Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia. | Trinder M et al. | β | 2024 | β |
| Insights into trait-association of selectionΒ signatures and adaptive eQTL in indigenous African cattle. | Friedrich J et al. | β | 2024 | β |
| Integrated proteomic and genomic analysis to identify predictive biomarkers for valproate response in bipolar disorder: a 6-month follow-up study. | Lee H et al. | β | 2024 | β |
| Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes. | Borges MC et al. | β | 2024 | β |
| Interactions of the CSF3R polymorphism and early stress on future orientation: evidence for the differential model of stress-related growth. | Gan Y et al. | β | 2024 | β |
| Intergenerational and genetic influences on physical activity: family data from the HUNT study, Norway. | Flaaten M et al. | β | 2024 | β |
| Introgression and disruption of migration routes have shaped the genetic integrity of wildebeest populations. | Liu X et al. | β | 2024 | β |
| Is increased mutation driving genetic diversity in dogs within the Chornobyl exclusion zone? | Dillon MN et al. | β | 2024 | β |
| jMorp: Japanese Multi-Omics Reference Panel update report 2023. | Tadaka S et al. | β | 2024 | β |
| Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation. | Xu ZM et al. | β | 2024 | β |
| Joint Linkage and Association Analysis Using GENEHUNTER-MODSCORE with an Application to Familial Pancreatic Cancer. | Brugger M et al. | β | 2024 | β |
| Large-scale cross-ancestry genome-wide meta-analysis of serum urate. | Cho C et al. | β | 2024 | β |
| Large-scale genome sequencing of giant pandas improves the understanding of population structure and future conservation initiatives. | Lan T et al. | β | 2024 | β |
| Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. | Zouache MA et al. | β | 2024 | β |
| Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores. | Naito T et al. | β | 2024 | β |
| MD-ALL: an integrative platform for molecular diagnosis of B-acute lymphoblastic leukemia. | Hu Z et al. | β | 2024 | β |
| Mendelian randomisation and mediation analysis of self-reported walking pace and coronary artery disease. | Timmins IR et al. | β | 2024 | β |
| Mendelian randomization analysis of maternal coffee consumption during pregnancy on offspring neurodevelopmental difficulties in the Norwegian Mother, Father and Child Cohort Study (MoBa). | D'Urso S et al. | β | 2024 | β |
| Mendelian randomization study of whole blood viscosity and cardiovascular diseases. | Bhak Y et al. | β | 2024 | β |
| Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias. | Weng LC et al. | β | 2024 | β |
| MethylGenotyper: Accurate Estimation of SNP Genotypes and Genetic Relatedness from DNA Methylation Data. | Jiang Y et al. | β | 2024 | β |
| MGA loss-of-function variants cause premature ovarian insufficiency. | Tang S et al. | β | 2024 | β |
| Mitochondrial Variation in Anopheles gambiae and Anopheles coluzzii: Phylogeographic Legacy and Mitonuclear Associations With Metabolic Resistance to Pathogens and Insecticides. | Amaya Romero JE et al. | β | 2024 | β |
| Modelling the demographic history of human North African genomes points to a recent soft split divergence between populations. | Serradell JM et al. | β | 2024 | β |
| Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions. | Purdue MP et al. | β | 2024 | β |
| Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. | Smith JL et al. | β | 2024 | β |
| Multi-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations. | Szczesny B et al. | β | 2024 | β |
| Multiple-Wave Admixture and Adaptive Evolution of the Pamirian Wakhi People. | Xu W et al. | β | 2024 | β |
| Natural selection and genetic diversity maintenance in a parasitic wasp during continuous biological control application. | Li B et al. | β | 2024 | β |
| Negative Selection on a SOD1 Mutation Limits Canine Degenerative Myelopathy While Avoiding Inbreeding. | Ukawa H et al. | β | 2024 | β |
| New colonisers drive the increase of the emerging loggerhead turtle nesting in Western Mediterranean. | Luna-Ortiz A et al. | β | 2024 | β |
| Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene. | Tenorio-Castano J et al. | β | 2024 | β |
| Novel Insights into the Landscape of Crossover and Noncrossover Events in Rhesus Macaques (Macaca mulatta). | Versoza CJ et al. | β | 2024 | β |
| ntsm: an alignment-free, ultra-low-coverage, sequencing technology agnostic, intraspecies sample comparison tool for sample swap detection. | Chu J et al. | β | 2024 | β |
| Origin and diversity of the wild cottons (Gossypium hirsutum) of Mound Key, Florida. | Ning W et al. | β | 2024 | β |
| Parental education and children's depression, anxiety, and ADHD traits, a within-family study in MoBa. | Hughes AM et al. | β | 2024 | β |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. | Towns C et al. | β | 2024 | β |
| Partitioning genetic effects on birthweight at classical human leukocyte antigen loci into maternal and fetal components, using structural equation modelling. | Wang G et al. | β | 2024 | β |
| Patterns of Gene Flow in <i>Anopheles coluzzii</i> Populations From Two African Oceanic Islands. | Campos M et al. | β | 2024 | β |
| Patterns of recombination in snakes reveal a tug-of-war between PRDM9 and promoter-like features. | Hoge C et al. | β | 2024 | β |
| Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases. | Homilius M et al. | β | 2024 | β |
| Pharmacodynamic changes in tumor and immune cells drive iberdomide's clinical mechanisms of activity in relapsed and refractory multiple myeloma. | Amatangelo M et al. | β | 2024 | β |
| Pharmacogenomic overlap between antidepressant treatment response in major depression & antidepressant associated treatment emergent mania in bipolar disorder. | NuΓ±ez NA et al. | β | 2024 | β |
| Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study. | Clarelli F et al. | β | 2024 | β |
| Phenotypic and ancestry-related assortative mating in autism. | Zhang J et al. | β | 2024 | β |
| Polygenic prediction of human longevity on the supposition of pervasive pleiotropy. | Jabalameli MR et al. | β | 2024 | β |
| Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder. | LaBianca S 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 as a marker for epilepsy risk across lifetime and after unspecified seizure events. | Heyne HO et al. | β | 2024 | β |
| Population genomics of post-glacial western Eurasia. | Allentoft ME et al. | β | 2024 | β |
| Populations of Latvia and Lithuania in the context of some Indo-European and non-Indo-European speaking populations of Europe and India: insights from genetic structure analysis. | DaniΕ«tΔ G et al. | β | 2024 | β |
| Population structure and interspecific hybridisation of two invasive blowflies (Diptera: Calliphoridae) following replicated incursions into New Zealand. | Croft L et al. | β | 2024 | β |
| Prioritizing Conservation Areas for the Hyacinth Macaw (<i>Anodorhynchus hyacinthinus</i>) in Brazil From Low-Coverage Genomic Data. | VilaΓ§a ST et al. | β | 2024 | β |
| Private detection of relatives in forensic genomics using homomorphic encryption. | de Souza FDM et al. | β | 2024 | β |
| Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. | Zhao Y et al. | β | 2024 | β |
| Rapid diversification of grey mangroves (Avicennia marina) driven by geographic isolation and extreme environmental conditions in the Arabian Peninsula. | Friis G et al. | β | 2024 | β |
| Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. | Olfson E et al. | β | 2024 | β |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. | Pottinger TD et al. | β | 2024 | β |
| Recently Delisted Songbird Harbors Extensive Genomic Evidence of Inbreeding, Potentially Complicating Future Recovery. | CalderΓ³n AM et al. | β | 2024 | β |
| Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection. | Dinh BL et al. | β | 2024 | β |
| Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers. | Gao Y et al. | β | 2024 | β |
| Reduced Representation and Whole-Genome Sequencing Approaches Highlight Beluga Whale Populations Associated to Eastern Canada Summer Aggregations. | Montana L 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 |
| Relatives reproduce in synchrony: kinship and individual condition shape intraspecific variation in masting phenotype. | Bogdziewicz M et al. | β | 2024 | β |
| Repeated plague infections across six generations of Neolithic Farmers. | Seersholm FV et al. | β | 2024 | β |
| Resequencing of reindeer genomes provides clues to their docile habits. | Wu B et al. | β | 2024 | β |
| Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank. | Rodriguez-Algarra F et al. | β | 2024 | β |
| Runs of homozygosity reveal contrasting histories of inbreeding across global lineages of the edible porcini mushroom, Boletus edulis. | Brejon LamartiniΓ¨re E 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 |
| Searching across-cohort relatives in 54,092 GWAS samples via encrypted genotype regression. | Zhang QX et al. | β | 2024 | β |
| Secreted Protein Profiling of Human Aortic Smooth Muscle Cells Identifies Vascular Disease Associations. | Aherrahrou R et al. | β | 2024 | β |
| Secure discovery of genetic relatives across large-scale and distributed genomic data sets. | Hong MM et al. | β | 2024 | β |
| Secure Discovery of Genetic Relatives across Large-Scale and Distributed Genomic Datasets. | Hong MM et al. | β | 2024 | β |
| Selection despite low genetic diversity and high gene flow in a rapid island invasion of the bumblebee, Bombus terrestris. | Kardum Hjort C et al. | β | 2024 | β |
| shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores. | Kelemen M et al. | β | 2024 | β |
| Shared genetic architecture of non-viral cirrhosis with several pleiotropic traits: A nested case-control study in the UK Biobank. | Byun J et al. | β | 2024 | β |
| Signatures of adaptation at key insecticide resistance loci in Anopheles gambiae in Southern Ghana revealed by reduced-coverage WGS. | Dennis TPW et al. | β | 2024 | β |
| Single-cell multi-cohort dissection of the schizophrenia transcriptome. | Ruzicka WB et al. | β | 2024 | β |
| SMIM1 absence is associated with reduced energy expenditure and excess weight. | Stefanucci L et al. | β | 2024 | β |
| SNVstory: inferring genetic ancestry from genome sequencing data. | Bollas AE et al. | β | 2024 | β |
| Socioeconomic inequalities, genetic susceptibility, and risks of depression and anxiety: A large-observational study. | Qi X et al. | β | 2024 | β |
| Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. | Maury EA et al. | β | 2024 | β |
| SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population. | Moreno-Cabrera JM et al. | β | 2024 | β |
| Syndromic ciliopathy: a taiwanese single-center study. | Pan YW et al. | β | 2024 | β |
| Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. | Hop PJ et al. | β | 2024 | β |
| Temperature impacts the bovine ex vivo immune response towards Mycoplasmopsis bovis. | DΓ©moulins T et al. | β | 2024 | β |
| The burden of anthropogenic changes and mutation load in a critically endangered harrier from the Reunion biodiversity hotspot, Circus maillardi. | Bourgeois Y et al. | β | 2024 | β |
| The chromosome-scale genome and population genomics reveal the adaptative evolution of <i>Populus pruinosa</i> to desertification environment. | Sun J 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 genetic architecture of biological age in nine human organ systems. | Wen J et al. | β | 2024 | β |
| The genetic architecture of multimodal human brain age. | Wen J et al. | β | 2024 | β |
| The genetic legacy of the first successful reintroduction of a mammal to Britain: Founder events and attempted genetic rescue in Scotland's beaver population. | Taylor HR et al. | β | 2024 | β |
| The genetic origins and impacts of historical Papuan migrations into Wallacea. | Purnomo GA et al. | β | 2024 | β |
| The genetic regulation of the gastric transcriptome is associated with metabolic and obesity-related traits and diseases. | Koebbe LL et al. | β | 2024 | β |
| The genome and population genomics of allopolyploid Coffea arabica reveal the diversification history of modern coffee cultivars. | SalojΓ€rvi J et al. | β | 2024 | β |
| The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population. | Lundtoft C et al. | β | 2024 | β |
| The impact of assortative mating, participation bias and socioeconomic status on the polygenic risk of behavioural and psychiatric traits. | Cabrera-Mendoza B 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 landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity. | Kars ME et al. | β | 2024 | β |
| The landscape of RNA binding proteins in mammalian spermatogenesis. | Li Y et al. | β | 2024 | β |
| The Once and Future Fish: Assessing a Millennium of Atlantic Herring Exploitation Through Mixed-Stock Analysis and Ancient DNA. | Atmore LM et al. | β | 2024 | β |
| The Time-Varying Impact of COVID-19 on the Acute Kidney Disorders: A Historical Matched Cohort Study and Mendelian Randomization Analysis. | Li C et al. | β | 2024 | β |
| Three modes of viral adaption by the heart. | Griffiths CD et al. | β | 2024 | β |
| Tracking the North American Asian Longhorned Beetle Invasion With Genomics. | Cui M et al. | β | 2024 | β |
| TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus. | Duy PQ et al. | β | 2024 | β |
| Two more families supporting the existence of monogenic spinocerebellar ataxia 48. | Palombo F et al. | β | 2024 | β |
| Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort. | Westergaard D et al. | β | 2024 | β |
| Under the name of "Lua": revisiting genetic heterogeneity and population ancestry of Austroasiatic speakers in northern Thailand through genomic analysis. | Kampuansai J et al. | β | 2024 | β |
| Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India. | Krishna SM et al. | β | 2024 | β |
| Utilizing non-invasive prenatal test sequencing data for human genetic investigation. | Liu S 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 ranking pipeline for complex familial disorders. | Ralli S et al. | β | 2024 | β |
| Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. | Bansal V et al. | β | 2024 | β |
| Whole-Genome Analyses Reveal the Distinct Taxonomic Status of the Hainan Population of Endangered <i>Rucervus eldii</i> and Its Conservation Implications. | Zheng C et al. | β | 2024 | β |
| Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs. | Γ s J et al. | β | 2024 | β |
| Whole genome resequencing-based analysis of plateau adaptation in Meiren yak (<i>Bos grunniens</i>). | Wang T et al. | β | 2024 | β |
| Whole-Genome Resequencing Reveals Genetic Diversity and Wool Trait-Related Genes in Liangshan Semi-Fine-Wool Sheep. | Sun X et al. | β | 2024 | β |
| Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. | Wang H et al. | β | 2024 | β |
| Whole-genome sequencing identifies novel genes for autism in Chinese trios. | Chang S et al. | β | 2024 | β |
| Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing. | Senthivel V et al. | β | 2024 | β |
| Whole-genome sequencing of the invasive golden apple snail Pomacea canaliculata from Asia reveals rapid expansion and adaptive evolution. | Lu Y et al. | β | 2024 | β |
| Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease. | Kang M et al. | β | 2024 | β |
| Whole Genomes Inform Genetic Rescue Strategy for Montane Red Foxes in North America. | Quinn CB et al. | β | 2024 | β |
| Why we thrive beneath a northern sky - genomic signals of selection in apple for adaptation to northern Sweden. | Skytte Af SΓ€tra J et al. | β | 2024 | β |
| A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders. | Jiang Y et al. | β | 2023 | β |
| A fast non-parametric test of association for multiple traits. | Garrido-MartΓn D 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 resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders. | Detera-Wadleigh SD et al. | β | 2023 | β |
| Association between systolic blood pressure and low-density lipoprotein cholesterol with coronary heart disease according to age. | Wang N et al. | β | 2023 | β |
| Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory. | Avgan N et al. | β | 2023 | β |
| Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. | Smolen C et al. | β | 2023 | β |
| Between but Not Within-Species Variation in the Distribution of Fitness Effects. | James J 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 |
| Concordance of a High Lipoprotein(a) Concentration Among Relatives. | Reeskamp LF et al. | β | 2023 | β |
| Deep ancestry of Bornean hunter-gatherers supports long-term local ancestry dynamics. | Kusuma P et al. | β | 2023 | β |
| Differences in the genomic diversity, structure, and inbreeding patterns in wild and managed populations of Agave potatorum Zucc. used in the production of TobalΓ‘ mezcal in Southern Mexico. | Ruiz MondragΓ³n KY et al. | β | 2023 | β |
| Disentangling the origins of viticulture in the western Mediterranean. | Breglia F et al. | β | 2023 | β |
| Diverse African genomes reveal selection on ancient modern human introgressions in Neanderthals. | Harris DN et al. | β | 2023 | β |
| East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease. | He Y et al. | β | 2023 | β |
| Eurasian back-migration into Northeast Africa was a complex and multifaceted process. | HammarΓ©n R et al. | β | 2023 | β |
| Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. | Kawai Y et al. | β | 2023 | β |
| Genetic Affinities and Adaptation of the South-West Coast Populations of India. | Kumar L et al. | β | 2023 | β |
| Genetic and Nongenetic Components of Stroke Family History: A Population Study of Adopted and Nonadopted Individuals. | Mayerhofer E et al. | β | 2023 | β |
| Genetic landscape of Parkinson's disease and related diseases in Luxembourg. | Landoulsi Z 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 |
| Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease. | Williams AT et al. | β | 2023 | β |
| Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. | Abdi M et al. | β | 2023 | β |
| Genomic loci influence patterns of structural covariance in the human brain. | Wen J et al. | β | 2023 | β |
| Hybridization of Atlantic puffins in the Arctic coincides with 20th-century climate change. | Kersten O et al. | β | 2023 | β |
| Identification of a regulatory pathway governing TRAF1 via an arthritis-associated non-coding variant. | Wang Q et al. | β | 2023 | β |
| Indigenous Australian genomes show deep structure and rich novel variation. | Silcocks M et al. | β | 2023 | β |
| Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape. | Goovaerts S et al. | β | 2023 | β |
| Longitudinal multi-omics study reveals common etiology underlying association between plasma proteome and BMI trajectories in adolescent and young adult twins. | Drouard G et al. | β | 2023 | β |
| LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. | Hwang JY et al. | β | 2023 | β |
| Mapping restricted introgression across the genomes of admixed indigenous African cattle breeds. | Friedrich J et al. | β | 2023 | β |
| Mexican Biobank advances population and medical genomics of diverse ancestries. | Sohail M et al. | β | 2023 | β |
| Neanderthal introgression in SCN9A impacts mechanical pain sensitivity. | Faux P et al. | β | 2023 | β |
| New Insights into Polygenic Score-Lifestyle Interactions for Cardiometabolic Risk Factors from Genome-Wide Interaction Analyses. | D'Urso S et al. | β | 2023 | β |
| Phenome-wide association study on miRNA-related sequence variants: the UK Biobank. | Mustafa R et al. | β | 2023 | β |
| Polygenic risk alters the penetrance of monogenic kidney disease. | Khan A et al. | β | 2023 | β |
| Population Genomics of the Critically Endangered Brazilian Merganser. | Campos DP et al. | β | 2023 | β |
| Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer's polygenic risk reveals autobiographical deficits and cingulate cortex correlates. | Lancaster T et al. | β | 2023 | β |
| Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis. | Wang B et al. | β | 2023 | β |
| Quantitative estimate of cognitive resilience and its medical and genetic associations. | Phongpreecha T et al. | β | 2023 | β |
| Rapid evolution of novel biotic interactions in the UK Brown Argus butterfly uses genomic variation from across its geographical range. | de Jong M et al. | β | 2023 | β |
| Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. | Zhu N et al. | β | 2023 | β |
| Reconstruction of private genomes through reference-based genotype imputation. | Mosca MJ et al. | β | 2023 | β |
| Single Nucleotide Polymorphisms Associated With Motor Recovery in Patients With Nondisabling Stroke: GWAS Study. | Aldridge CM et al. | β | 2023 | β |
| SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands. | Gislason H | β | 2023 | β |
| Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. | Gupta Y et al. | β | 2023 | β |
| The parasitic nematode Strongyloides ratti exists predominantly as populations of long-lived asexual lineages. | Cole R et al. | β | 2023 | β |
| Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies. | Gouveia MH 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 |
| Whole genomes from Angola and Mozambique inform about the origins and dispersals of major African migrations. | Tallman S et al. | β | 2023 | β |