ArticleNature communications2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.European journal of human genetics : EJHG · 2025Pooled it
- Designing National Programmes for Expanded Carrier Screening: Results from a Discrete-Choice Experiment in Singapore.The patient · 2026Article
- Whole genome sequencing of 1427 Mexican individuals from the oriGen cohort.Nature communications · 2026Article
- Translating genomic data into healthcare practice with the Singapore National Precision Medicine program.Nature genetics · 2026Review
- Building a Precision Health Ecosystem: Singapore's Approach to Innovation through the Clinical Implementation Pilots.NPJ genomic medicine · 2026Review
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.American journal of human genetics · 2026Article
- Economic Evaluation of Pre-emptive Pharmacogenetic Panel Testing versus No Genetic Testing in a Multi-ethnic Asian Population.PharmacoEconomics · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D.Nature communications · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- The Hong Kong Genome Project is a flagship initiative for precision medicine in Chinese populations.Nature medicine · 2026Article
- Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness.Research square · 2026Article
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.European journal of human genetics : EJHG · 2026Observational
- Unlocking the potential of Asian genomic data: a collaborative framework for precision medicine innovation.GigaScience · 2026Review
- Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.Journal of personalized medicine · 2026Review
- Adversity, adiposity, nutrition and metabolic well-being in multi-ethnic Asia.Nature metabolism · 2026Review
- Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster.JCO oncology practice · 2026Article
- Opportunities to improve open All of Us data to convey CYP2D6 pharmacological relevance and interpretation overall and according to ancestry.Frontiers in pharmacology · 2026Article
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
Corrections and comments
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Authors and funding
33 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast Asian ancestries. We observe disparate genetic risk burden attributable to ancestry-specific recurrent variants and identify individuals with variants specific to ancestries discordant to their self-reported ethnicity, mostly due to cryptic admixture. About 27% of severe recessive disorder genes with appreciable carrier frequencies in Asians are missed by carrier screening panels, and we estimate 0.5% Asian couples at-risk of having an affected child. Prevalence of medically-actionable variant carriers is 3.4% and a further 1.6% harbour variants with potential for pathogenic classification upon additional clinical/experimental evidence. We profile 23 pharmacogenes with high-confidence gene-drug associations and find 22.4% of Asians at-risk of Centers for Disease Control and Prevention Tier 1 genetic conditions concurrently harbour pharmacogenetic variants with actionable phenotypes, highlighting the benefits of pre-emptive pharmacogenomics. Our findings illuminate the diversity in genetic disease epidemiology and opportunities for precision medicine for a large, diverse Asian population.
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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.