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, 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 NguyenHoa Giang, Minh Duy Phan

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number19142
JournalScientific Reports
Issue number1
Publication statusPublished - 2020

Subject classification (UKÄ)

  • Medical Genetics


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