Internet Archive Scholar

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

Ngoc Hieu Tran, Thanh Binh Vo, Van Thong Nguyen, Nhat-Thang Tran, Thu-Huong Nhat Trinh, Hong-Anh Thi Pham, Thi Hong Thuy Dao, Ngoc Mai Nguyen, Yen-Linh Thi Van, Vu Uyen Tran, Hoang Giang Vu, Quynh-Tram Nguyen Bui (+10 others)
2020 Scientific Reports  

Preserved Fulltext

fulltext thumbnail
Web Archive Capture PDF (2.8 MB)
https://web.archive.org/web/20210429060741/https://www.nature.com/articles/s41598-020-76245-5.pdf?error=cookies_not_supported&code=2808407d-d18e-4094-8dae-91ebc961a054

A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2021; you can also visit the original URL. The file type is application/pdf.

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
more » ... enetic 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.
doi:10.1038/s41598-020-76245-5 pmid:33154511 fatcat:wrxc3bevw5b5jbfwdgmkpydn4q
DOAJ
Citation

Ngoc Hieu Tran, Thanh Binh Vo, Van Thong Nguyen, Nhat-Thang Tran, Thu-Huong Nhat Trinh, Hong-Anh Thi Pham, Thi Hong Thuy Dao, Ngoc Mai Nguyen, Yen-Linh Thi Van, Vu Uyen Tran, Hoang Giang Vu, Quynh-Tram Nguyen Bui, Phuong-Anh Ngoc Vo, Huu Nguyen Nguyen, Quynh-Tho Thi Nguyen, Thanh-Thuy Thi Do, Nien Vinh Lam, Phuong Cao Thi Ngoc, Dinh Kiet Truong, Hoai-Nghia Nguyen, Hoa Giang, Minh-Duy Phan. "Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data." Scientific Reports 10.1 (2020) 19142