ArticleNature communications2016
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Is Our Science Representative? A Systematic Review of Racial and Ethnic Diversity in Orthopaedic Clinical Trials from 2000 to 2020.Clinical orthopaedics and related research · 2022Pooled it
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- Low-frequency variants at thePharmacogenomics · 2019Trial
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- AI in variant analysis: fast track to genetic diagnoses.Human genetics · 2026Review
- Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.Nature genetics · 2026Article
- Genetic Determinants of T-Cell Homeostasis in Critical Illness: An Exploratory Analysis of Immune Gene Variants and TREC Dynamics.Journal of personalized medicine · 2026Article
- Assembling unmapped reads reveals hidden variation in South Asian genomes.Nature communications · 2026Article
- Regulating genome language models: navigating policy challenges at the intersection of AI and genetics.Human genetics · 2025Review
- Genetic Variation in Hydrochlorothiazide Response-Related Genes Among Hypertensive Individuals in Soweto, South Africa.Clinical and translational science · 2025Article
- Genetic disease risks of under-represented founder populations in New York City.PLoS genetics · 2025Article
- Equitable machine learning counteracts ancestral bias in precision medicine.Nature communications · 2025Article
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- Transcriptomics and chromatin accessibility in multiple African population samples.bioRxiv : the preprint server for biology · 2023Article
- Machine Learning-Guided Protein Engineering.ACS catalysis · 2023Review
- Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Review
- Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.NPJ precision oncology · 2023Article
- Inborn Errors of Immunity in Hidradenitis Suppurativa Pathogenesis and Disease Burden.Journal of clinical immunology · 2023Review
- Unraveling patient heterogeneity in complex diseases through individualized co-expression networks: a perspective.Frontiers in genetics · 2023Article
- Central resources of variant discovery and annotation and its role in precision medicine.Asian biomedicine : research, reviews and news · 2022Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in all variant classification sets but one. The source of these correlations is highlighted in more detail by looking at the interaction between filtering criteria and the ClinVar and Human Gene Mutation databases. ClinVar's correlation, representing African ancestry-related bias, has changed over time amidst monthly updates, with the most extreme switch happening between March and April of 2014 (r=0.733 to r=-0.683). We identify 68 SNPs as the major drivers of this change in correlation. As long as ancestry-related bias when using these clinical databases is minimally recognized, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations.
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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.