GWAS summary statistics
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1,000+ papers
- Genetic & Genomic MedicineHuman Brain MappingPeer-reviewed3 citationstop 3%
- Genetic & Genomic MedicinemedRxivPreprint
Genetic predisposition to loneliness increases schizophrenia and depression risk through inflammatory pathways: a Mendelian randomization study
Romualdo-Perez Coral, Golam Mohammed Khandaker, Eleanor C. M. Sanderson…·Livia Araujo de Carvalho
This study uses Mendelian randomization to show loneliness causally increases schizophrenia and depression risk, partially mediated by inflammatory pathways.
DOI 10.64898/2026.04.08.26350416 - Genetic & Genomic MedicinemedRxivPreprint
Shared genetic architecture of cortical morphology and psychiatric disorders: insights from a cross-trait analyses across 180 cortical regions
Yingzhe Zhang, Tian Ge, Travis T. Mallard…·Sander Lamballais
The paper identifies shared genetic loci between cortical morphology and psychiatric disorders, finding regional and global effects with directional heterogeneity.
DOI 10.64898/2026.04.10.26349224 - Genetic & Genomic MedicinemedRxivPreprint
Sex-Stratified Multi-Omics Identifies Sexually Dimorphic Molecular Targets in Parkinsons Disease
Joo-Yeon Lee, Jimin Lee, Seokho Lee…·Joohon Sung
This study identifies sex-specific molecular targets in Parkinson's disease through multi-omic integration, revealing sexually dimorphic pathways and gene associations.
DOI 10.64898/2026.04.10.26350571 - Genetic & Genomic MedicinemedRxivPreprint
Independent Genetic Effects of Glucagon-like Peptide-1 Receptor Locus on Body Mass Index and Type 2 Diabetes
Chang Liu, Qin Hui, Gregorio V. Linchangco…·Yan V. Sun
This study identifies two independent BMI-associated variants at the GLP1R locus with distinct associations with T2D risk, suggesting heterogeneous genetic mechanisms.
DOI 10.64898/2026.04.10.26350615 - Genetic & Genomic MedicinemedRxivPreprint
Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry
Dongmei Yu, Nora I. Strom, Zachary F. Gerring…·Pablo Mir
This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.
2 citations - Genetic & Genomic MedicinemedRxivPreprint
APOE4 Allele Frequencies Show Dramatic Variation Across Indian Populations
The paper examines APOE ε4 allele frequencies across 9,524 individuals from 83 Indian populations, revealing significant variation and associations with lipid phenotypes.
DOI 10.64898/2026.04.09.26350483 - Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Putting Polygenic Scores in Context: How Intersectional Factors Affect Relative and Absolute Genetic Risk
Mihael Cudic, Justin D. Tubbs, Tian Ge, Jordan W. Smoller
The paper examines how intersectional sociodemographic factors affect genetic risk estimates from polygenic scores across multiple diseases.
DOI 10.1016/j.ajhg.2026.03.013 - Genetic & Genomic MedicinemedRxivPreprint
Investigating the shared genetic architecture between chronic pain and depression
Hannah Casey, Xueyi Shen, Laurence Nisbet…·Heather Clare Whalley
This study identifies shared genetic loci between chronic pain and depression using genome-wide association data, revealing potential molecular mechanisms underlying their comorbidity.
DOI 10.64898/2026.04.03.26348156 - Genetic & Genomic MedicinemedRxivPreprint
Deriving LD-adjusted GWAS summary statistics through linkage disequilibrium deconvolution
Asma Nouira, Martin Tournaire, Mario Favre Moiron, Marie Verbanck
This paper introduces LDeconv, a method to adjust GWAS summary statistics for linkage disequilibrium, reducing false positives while preserving true associations.
DOI 10.64898/2026.04.10.26350574 - Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewed
Genome-Wide Association Study of Genetic Variants Associated with Lower Extremity Amputation Risk in Peripheral Artery Disease
Rajashekar Korutla, Tanisha Garg, Michael P Wilczek…·Saeed Amal
This study identifies genetic variants associated with lower extremity amputation risk in peripheral artery disease using GWAS from the All of Us Research Program.
DOI 10.3390/ijms27083405 - GenomicsbioRxivPreprint
Conditional genome-wide associations reveal novel genes
Emily S. Bellis, Marta Robertson, William W. Booker…·Mariano Álvarez
This paper introduces two new methods for gene discovery using conditional genome-wide associations and validates three novel genes affecting flowering time in Arabidopsis.
DOI 10.64898/2026.04.08.717258 - BioinformaticsbioRxivPreprint
GMIP-PLSR: A Nextflow Pipeline for GWAS and Multi-Omics Integration in Gene Prioritization Using PLSR
Mohammed Kanchwala, Chao Xing, Zhenyu Xuan
GMIP-PLSR improves GWAS gene prioritization by integrating multi-omics data using PLSR to address multicollinearity, outperforming PoPS in NAFLD case studies.
DOI 10.64898/2026.04.06.716845 - NeurosciencebioRxivPreprint
Multi-Stage Graph Attention Networks for Interpretable Alzheimer's Disease Classification from Genome-Wide Association Data
Ankita Saxena, Chris Gaiteri, Stephen V. Faraone
This paper develops a multi-stage graph attention network to improve Alzheimer's disease classification from genome-wide association data by capturing epistatic interactions and enhancing interpretability.
DOI 10.64898/2026.04.06.716790 - GeneticsbioRxivPreprint
Cell-specific variant-to-gene mapping identifies conserved neural and glial regulators of sleep
Amber J. Zimmerman, Samaneh Biglari, Bao Khanh Trang…·Alex C. Keene
The paper identifies cell-type-specific genes regulating sleep by mapping GWAS variants to effector genes in human and Drosophila models, revealing ruby/AP3B2 as a conserved glial regulator.
DOI 10.64898/2026.04.07.715910 - Genetic & Genomic MedicinemedRxivPreprint
A non-coding variant at 2p24.2 confers susceptibility to non-syndromic cleft lip and palate through LLPS-dependent regulation of MYCN
Zhaoyi Wu, Zhiying Yuan, Ruihuan Yang…·Miao He
This study identifies a non-coding variant at 2p24.2 that increases susceptibility to NSCLP by disrupting FOXP2-mediated LLPS and impairing MYCN transcriptional activation.
DOI 10.64898/2026.04.07.26350283 - BioinformaticsBMC GenomicsPeer-reviewed
From SNPs to Pathways: A genome-wide benchmark of annotation discrepancies and their impact on protein- and pathway-level inference
Bryan Queme, Anushya Muruganujan, Dustin Ebert…·Huaiyu Mi
The paper benchmarks SNP annotation tools and gene models across the genome, showing discrepancies in annotation and their impact on pathway analysis.
- Genetic & Genomic MedicinemedRxivPreprint
Shared Genetic Architecture Between Kidney Function and Alzheimer Disease Across Ancestries
Diya Yang, Y. Yang, Nicholas R. Ray…·William S. Bush
This paper identifies shared genetic loci between kidney function and Alzheimer disease across ancestries, revealing both horizontal and vertical pleiotropy with APOE as the only shared locus.
- Genetic & Genomic MedicinemedRxivPreprint
PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients
Marwa Abdelhakim, Azza Althagafi, Paul N. Schofield, Robert Hoehndorf
PAVS is a database of phenotype-associated variants from Saudi Arabian rare disease patients, enabling gene prioritization through phenotype-based similarity search.
DOI 10.64898/2026.04.05.26350189 - Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewed
Integrative GWAS Identifies Novel Loci and Genetic Links Between Psychiatric and Metabolic Factors in Anorexia Nervosa
Yingchao Song, Yue Jiang, He Tian…·Xiao Chang
This study identifies a novel genetic locus near SOX5 and reveals causal links between psychiatric and metabolic factors in anorexia nervosa using integrative GWAS and cross-trait analysis.
- Genetic & Genomic MedicineBioData MiningPeer-reviewed
WebGWAS: A web server for instant GWAS on arbitrary phenotypes
Michael Zietz, Undina Gisladottir, Kathleen LaRow Brown, Nicholas P. Tatonetti
WebGWAS provides a web tool to quickly generate approximate GWAS summary statistics for custom phenotypes without requiring individual-level data.
DOI 10.1186/s13040-026-00548-y - GeneticsbioRxivPreprint
Dissecting oligogenic and polygenic indirect genetic effects through the lens of neighboring plant genotypes
Yasuhiro Sato, Kosuke Hamazaki
The paper develops a multi-kernel mixed model to analyze indirect genetic effects (IGEs) in plant genotypes, finding evidence of intergenotypic competition in aspen and apple trees.
DOI 10.64898/2026.03.31.715746 - BioinformaticsbioRxivPreprint
Benchmarking Heritability Estimation Strategies Across 86 Configurations and Their Downstream Effect on Polygenic Risk Score Performance
Muhammad Muneeb, David Benjamin Ascher
This study benchmarks 86 heritability estimation configurations and evaluates their impact on polygenic risk score performance across 10 UK Biobank phenotypes.
DOI 10.64898/2026.04.02.716079 - Genetic & Genomic MedicinemedRxivPreprint
Functionality-Informed Fine-Mapping Dissects Common Variant Contributions to Coronary Artery Disease and Identifies Causal Variants and Pathways
Jacob Thoft Jacobsen, Peter Loof Møller, Palle Duun Rohde
This study uses functionality-informed fine mapping to identify causal variants and pathways contributing to coronary artery disease risk using GWAS summary statistics from over a million individuals.
DOI 10.64898/2026.04.01.26349823 - BioinformaticsbioRxivPreprint
PopGenAgent: An Agent-Mediated Workflow for Population Genetics Analyses
Houcheng Su, Weicai Long, Juning Feng…·Yanlin Zhang
PopGenAgent streamlines population genetics analyses by organizing tasks into a structured workflow, enabling reproducible and transparent multi-step analyses with preserved intermediate results.
DOI 10.64898/2026.03.02.709209 - GenomicsbioRxivPreprint
Population-scale immunoglobulin genetics resolves the human B-cell system
Zain Ali, Aitzkoa Lopez de Lapuente Portilla, Guðmar Þorleifsson…·Björn Nilsson
The paper uses population-scale Ig genetics to identify genetic associations and map their effects on the human B-cell system, revealing new genes and regulatory mechanisms in humoral immunity.
DOI 10.64898/2026.03.30.715216 - Genetic & Genomic MedicinemedRxivPreprint
Genome-Wide Discovery Reveals Adipose-Specific and Systemic Regulators of Insulin Resistance
Mario García‐Ureña, Pearlyn Jia Ying Toh, Raquel Martínez…·Tuomas O. Kilpeläinen
This study identifies 282 genetic loci associated with insulin resistance through multi-trait GWAS, highlighting adipose-specific and systemic regulators and potential therapeutic targets.
DOI 10.64898/2026.03.31.26349822 - Genetic & Genomic MedicineJournal of Community GeneticsPeer-reviewed
Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder Views
Jessica Prettyman, Thomas J. Hoffmann, Sawona Biswas, Aleksandar Rajkovic
This study evaluates genetic ancestry report concordance across providers, compares ancestry to self-identified race/ethnicity, and explores perspectives on integrating ancestry data into EHRs.
- GenomicsbioRxivPreprint
Multi-trait colocalisation using MystraColoc: improved performance, deeper insights
Valentina Iotchkova, Michael E. Weale
The paper introduces MystraColoc, a Bayesian algorithm for multi-trait colocalisation, showing improved performance in clustering genetic association signals across GWAS datasets.
DOI 10.64898/2026.03.30.715409 - BioinformaticsIEEE Transactions on Computational Biology and BioinformaticsPeer-reviewed
Enhanced disease susceptible variant identification via short identity by descent segments
Chonghao Wang, Werner Pieter Veldsman, Yufen Huang…·Lu Zhang
SILO improves detection of disease susceptible variants in short IBD segments, outperforming existing models in simulated and real data.
DOI 10.1109/tcbbio.2026.3678898