Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
(2020) In Scientific Reports 10(1).- 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... (More)
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.
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- organization
- publishing date
- 2020
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Scientific Reports
- volume
- 10
- issue
- 1
- article number
- 19142
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:85095415652
- pmid:33154511
- ISSN
- 2045-2322
- DOI
- 10.1038/s41598-020-76245-5
- language
- English
- LU publication?
- yes
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- 2b786269-f8a5-4098-96e4-19f754c744f5
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- 2020-11-13 09:48:49
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- 2024-05-01 20:48:15
@article{2b786269-f8a5-4098-96e4-19f754c744f5,
abstract = {{<p>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.</p>}},
author = {{Tran, Ngoc Hieu and Vo, Thanh Binh and Nguyen, Van Thong and Tran, Nhat Thang and Trinh, Thu Huong Nhat and Pham, Hong Anh Thi and Dao, Thi Hong Thuy and Nguyen, Ngoc Mai and Van, Yen Linh Thi and Tran, Vu Uyen and Vu, Hoang Giang and Bui, Quynh Tram Nguyen and Vo, Phuong Anh Ngoc and Nguyen, Huu Nguyen and Nguyen, Quynh Tho Thi and Do, Thanh Thuy Thi and Lam, Nien Vinh and Ngoc, Phuong Cao Thi and Truong, Dinh Kiet and Nguyen, Hoai Nghia and Giang, Hoa and Phan, Minh Duy}},
issn = {{2045-2322}},
language = {{eng}},
number = {{1}},
publisher = {{Nature Publishing Group}},
series = {{Scientific Reports}},
title = {{Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data}},
url = {{http://dx.doi.org/10.1038/s41598-020-76245-5}},
doi = {{10.1038/s41598-020-76245-5}},
volume = {{10}},
year = {{2020}},
}