ArticleNature genetics2017
The promise of discovering population-specific disease-associated genes in South Asia.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 4 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
102 citing papers in PubMed, 4 syntheses or guidelines pooled it, 193 citations in OpenAlex.
- Human genetic diversity across South Asian populations: A systematic review and meta-analysis.Medicine · 2025Pooled it
- Pooled it
- Associations of autozygosity with a broad range of human phenotypes.Nature communications · 2019Pooled it
- Low quality cardiovascular care is important coronary risk factor in India.Indian heart journal · 2018Pooled it
- Distinct trajectories of urbanization shape the human gut microbiome across South Asia.Gut microbes · 2026Article
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHG · 2026Article
- Ancient genomes from Ladakh reveal 2800-year-old admixture between Tibetans and South Asians.Science advances · 2026Article
- Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar Desert.HGG advances · 2026Article
- Novel MC1R variants cause red hair and lighter skin color.HGG advances · 2026Article
- Genome-wide spectrum of coding DNA variations in Indian patients with amyotrophic lateral sclerosis.Journal of neurology · 2026Article
- From Nuisance to Signal: Leveraging Close Relatives in Biobank-Scale Demographic Inference.bioRxiv : the preprint server for biology · 2026Article
- A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India.HGG advances · 2026Article
- Ancient genomes from Ladakh reveal 2800-year-old mixture between Tibetans and South Asians.bioRxiv : the preprint server for biology · 2026Article
- Distinct trajectories of urbanization shape the human gut microbiome across South Asia.bioRxiv : the preprint server for biology · 2026Article
- Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.Journal of neurology · 2026Article
- A SNP panel for co-analysis of capture and shotgun ancient DNA data.bioRxiv : the preprint server for biology · 2025Article
- Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.Journal of human genetics · 2025Article
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Article
- Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier.Science advances · 2025Article
42 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
17 authors at 9 institutions in 2 countries.
Funding
Abstract
The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 260 distinct South Asian groups. We identified 81 unique groups, 14 of which had estimated census sizes of more than 1 million, that descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. We identified multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an underappreciated opportunity for decreasing disease burden among South Asians through discovery of and testing for recessive disease-associated genes.
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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.