ArticleGenome biology2021
The variant call format provides efficient and robust storage of GWAS summary statistics.
Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 11 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
169 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways.EBioMedicine · 2026Pooled it
- Multi ancestry genome wide association meta analysis of urinary aMT6s levels.Scientific reports · 2026Pooled it
- Genetic evidence of the causal relationship between genetically predicted nutrients and psoriatic arthritis.Clinical rheumatology · 2026Pooled it
- A genome-wide association study of buccal mucosa cancer in India and multi-ancestry meta-analysis discovers risk loci and gene-environment interactions.EBioMedicine · 2025Pooled it
- Helicobacter pylori Infection and Eradication in Relation to Gastroesophageal Reflux Disease.Journal of gastroenterology and hepatology · 2025Pooled it
- Identification ofDepression and anxiety · 2025Pooled it
- Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.Nature genetics · 2024Pooled it
- Inflammatory bowel disease and risk of autoimmune hepatitis: A univariable and multivariable Mendelian randomization study.PloS one · 2024Pooled it
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- Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes.Genome medicine · 2022Pooled it
- Unveiling the association between plasma lipid species and pan-cancers: A bidirectional 2-sample Mendelian randomization study.Medicine · 2026Article
- Association Between Socioeconomic Status and Atrial Fibrillation: A Two-Sample Mendelian Randomization Study.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
- FCGR2A promoter variant reveals shared genetic susceptibility between IBD and stroke.Molecular and cellular biochemistry · 2026Article
- Causal link between circulating beta-hydroxybutyrate and myocardial infarction: Evidence from Mendelian randomization.Medicine · 2026Article
- Characterizing the impact of plasma protein levels on human brain structure and disorders leveraging integrative multi-omics analysis.medRxiv : the preprint server for health sciences · 2026Article
- CCAFE: Estimating case and control allele frequencies from GWAS summary statistics.HGG advances · 2026Article
- A TAD-informed aging-brain xQTL atlas of multi-modal and cell-type-resolved regulatory variation.medRxiv : the preprint server for health sciences · 2026Article
- Divergent autoimmune genetic landscapes in diabetic and non-diabetic individuals.BMC genomic data · 2026Article
- Integrative multi-omics analysis identifies endocrine-disrupting chemical-related molecular mechanisms in migraine.The journal of headache and pain · 2026Article
109 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
GWAS summary statistics are fundamental for a variety of research applications yet no common storage format has been widely adopted. Existing tabular formats ambiguously or incompletely store information about genetic variants and associations, lack essential metadata and are typically not indexed yielding poor query performance and increasing the possibility of errors in data interpretation and post-GWAS analyses. To address these issues, we adapted the variant call format to store GWAS summary statistics (GWAS-VCF) and developed open-source tools to use this format in downstream analyses. We provide open access to over 10,000 complete GWAS summary datasets converted to this format ( https://gwas.mrcieu.ac.uk ).
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.