ArticleAmerican journal of human genetics2013
Deep whole-genome sequencing of 100 southeast Asian Malays.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 2 of them syntheses that pooled it.
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Who cites it
106 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.Nature genetics · 2022Pooled it
- Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.Nature communications · 2018Pooled it
- Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.Molecular medicine reports · 2016Trial
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- Complex peopling history and expansion events inferred from large-scale modern and ancient Y chromosome sequences.Science advances · 2026Article
- Whole genome sequencing data of early- and late-onset colorectal cancer in 99 Korean patients.Scientific data · 2026Article
- Genomic evidence supports the "long chronology" for the peopling of Sahul.Science advances · 2025Article
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- Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.Cancer causes & control : CCC · 2025Article
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- High-coverage whole-genome sequencing of a Jakun individual from the "Orang Asli" Proto-Malay subtribe from Peninsular Malaysia.Human genome variation · 2025Article
- Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.Journal of genetics · 2025Article
- Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.Endocrine · 2024Article
- Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score.medRxiv : the preprint server for health sciences · 2024Article
- Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.Journal of human genetics · 2024Article
- Variant calling and genotyping accuracy of ddRAD-seq: Comparison with 20X WGS in layers.PloS one · 2024Article
- Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome.The EMBO journal · 2024Article
- Construction of ceRNA prognostic model based on the CCR7/CCL19 chemokine axis as a biomarker in breast cancer.BMC medical genomics · 2023Article
- South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.Nature communications · 2023Article
- The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.G3 (Bethesda, Md.) · 2023Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole-genome sequencing across multiple samples in a population provides an unprecedented opportunity for comprehensively characterizing the polymorphic variants in the population. Although the 1000 Genomes Project (1KGP) has offered brief insights into the value of population-level sequencing, the low coverage has compromised the ability to confidently detect rare and low-frequency variants. In addition, the composition of populations in the 1KGP is not complete, despite the fact that the study design has been extended to more than 2,500 samples from more than 20 population groups. The Malays are one of the Austronesian groups predominantly present in Southeast Asia and Oceania, and the Singapore Sequencing Malay Project (SSMP) aims to perform deep whole-genome sequencing of 100 healthy Malays. By sequencing at a minimum of 30× coverage, we have illustrated the higher sensitivity at detecting low-frequency and rare variants and the ability to investigate the presence of hotspots of functional mutations. Compared to the low-pass sequencing in the 1KGP, the deeper coverage allows more functional variants to be identified for each person. A comparison of the fidelity of genotype imputation of Malays indicated that a population-specific reference panel, such as the SSMP, outperforms a cosmopolitan panel with larger number of individuals for common SNPs. For lower-frequency (<5%) markers, a larger number of individuals might have to be whole-genome sequenced so that the accuracy currently afforded by the 1KGP can be achieved. The SSMP data are expected to be the benchmark for evaluating the value of deep population-level sequencing versus low-pass sequencing, especially in populations that are poorly represented in population-genetics studies.
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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.