Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data.

ABSTRACT: 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-ass

SUBMITTER: Tran NH 

PROVIDER: S-EPMC7644705 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature