ArticleAmerican journal of human genetics2025
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research.
Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review.The Journal of rheumatology · 2026Pooled it
- Reporting and representation of population descriptors in public RNA-seq databases.Cell genomics · 2026Article
- HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.bioRxiv : the preprint server for biology · 2026Article
- Associations between genetic ancestry and allergic outcomes at 10 years among Black children.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2026Article
- Article
- Associations of the gut microbiome and cardiometabolic risk in adolescence: the HOME study.BMC medical genomics · 2026Article
- RNAScope-Ancestry: A Cross-Modality Framework for Inferring Genetic Ancestry from RNA-Seq with Application to MECA.Research square · 2026Article
- Sex differences in LDL-C genetic architecture and statin efficacy in All of Us.medRxiv : the preprint server for health sciences · 2026Article
- Placental biology links genetic, epigenetic, ancestral, and social determinants to maternal-fetal health inequities.Frontiers in reproductive health · 2026Review
- Admixture mapping identifies complex trait associations with local ancestry in themedRxiv : the preprint server for health sciences · 2025Article
- Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice.Journal of genetic counseling · 2025Article
- Nutrigenomics meets multi-omics: integrating genetic, metabolic, and microbiome data for personalized nutrition strategies.Genes & nutrition · 2025Review
- Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications.International journal of neonatal screening · 2025Review
- Ancestry-Specific Hypothetical Genetic Feedback About Lung Cancer Risk in African American Individuals Who Smoke: Cognitive, Emotional, and Motivational Effects on Cessation.Behavioral sciences (Basel, Switzerland) · 2025Article
- The use of race and ethnicity in sickle cell disease research.BMC medical research methodology · 2025Review
- Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies.Frontiers in genetics · 2025Review
- Article
- Ethical considerations of genetic and genomic testing in pediatric oncology: A narrative review.CA: a cancer journal for cliniciansReview
Corrections and comments
- Update of
Authors and funding
14 authors.
Funding
Abstract
The All of Us Research Program (All of Us) seeks to accelerate biomedical research and address the underrepresentation of minorities by recruiting over 1 million participants across the United States. A key question is how self-identification with discrete, predefined race and ethnicity categories compares to genetic variation at continental and subcontinental levels. To contextualize the genetic variation in All of Us, we analyzed ∼2 million common variants from 230,016 unrelated whole genomes using classical population genetics methods alongside reference panels such as the 1000 Genomes Project, Human Genome Diversity Project, and Simons Genome Diversity Project. Our analysis reveals that participants within self-identified race and ethnicity groups exhibit gradients of genetic variation rather than discrete clusters. The distributions of continental and subcontinental ancestries show considerable variation within race and ethnicity, both nationally and across states, reflecting the historical impacts of US colonization, the transatlantic slave trade, and recent migrations. All of Us samples filled most gaps along the top five principal components of genetic variation in current global reference panels. Notably, Hispanic or Latino participants spanned much of the three-way (African, Native American, and European) admixture spectrum. Ancestry was significantly associated with body mass index (BMI) and height even after adjusting for socio-environmental covariates. In particular, West-Central and East African ancestries showed opposite associations with BMI. This study emphasizes the importance of assessing subcontinental ancestries, as the continental approach is insufficient to control for confounding in genetic association studies.
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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 Socratic graph.