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Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
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Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
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Journal Article
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
2020
Overview
The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ 631/208
/ 631/337
/ Alleles
/ Asian Continental Ancestry Group - genetics
/ Female
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Genotype
/ Humanities and Social Sciences
/ Humans
/ LDCs
/ Medical Genetics and Genomics (including Gene Therapy)
/ Medicinsk genetik och genomik (Här ingår: Genterapi)
/ Medicinska och farmaceutiska grundvetenskaper
/ Noninvasive Prenatal Testing
/ Polymorphism, Single Nucleotide
/ Science
/ Single-nucleotide polymorphism
/ Vietnam
