ArticleGenome biology2018
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 148 papers, 12 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.
The trial behind it
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
148 citing papers in PubMed, 12 syntheses or guidelines pooled it.
- Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.Nature genetics · 2025Pooled it
- Association of the GRIK4 rs1954787 polymorphism with clinical response in antidepressant-treated depressed patients: results from a prospective cohort and meta-analysis.Molecular psychiatry · 2025Pooled it
- Interactions between Polygenic Risk of Obesity and Dietary Factors on Anthropometric Outcomes: A Systematic Review and Meta-Analysis of Observational Studies.The Journal of nutrition · 2024Pooled it
- The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- Genome-Wide Association Study Identifies Pharmacogenomic Variants Associated With Metformin Glycemic Response in African American Patients With Type 2 Diabetes.Diabetes care · 2024Pooled it
- Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.Scientific reports · 2022Pooled it
- Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.International journal of obesity (2005) · 2021Pooled it
- Ethical Principles, Constraints and Opportunities in Clinical Proteomics.Molecular & cellular proteomics : MCP · 2021Pooled it
- PPARG (Pro12Ala) genetic variant and risk of T2DM: a systematic review and meta-analysis.Scientific reports · 2020Pooled it
- Genome-wide association study of cognitive function in diverse Hispanics/Latinos: results from the Hispanic Community Health Study/Study of Latinos.Translational psychiatry · 2020Pooled it
- Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.Nature communications · 2019Pooled it
- A scientometric review of genome-wide association studies.Communications biology · 2019Pooled it
- Trial
- Reporting and representation of population descriptors in public RNA-seq databases.Cell genomics · 2026Article
- The Single-Cell Pediatric Cancer Atlas: Data portal and open-source tools for single-cell transcriptomics of pediatric tumors.Cell genomics · 2026Article
- Multi-ancestry modeling improves fine-mapping resolution, protein prediction, and discovery for proteome-wide association studies.medRxiv : the preprint server for health sciences · 2026Article
- Effects of genetic risk for depression and household socioeconomic status on emotional behavior and brain development in early adolescence.Developmental cognitive neuroscience · 2026Article
- Epigenetic biomarkers in inflammatory bowel diseases-computational challenges and opportunities.Journal of Crohn's & colitis · 2026Review
- A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India.HGG advances · 2026Article
- A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models.BMC bioinformatics · 2026Article
88 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
18 authors.
Funding
Abstract
The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.
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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 OpenQuestion graph.