Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
| العنوان: | Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data |
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| المؤلفون: | Yen Linh Thi Van, Thanh Thuy Thi Do, Van T. M. Nguyen, Vu Uyen Tran, Minh-Duy Phan, Huu Nguyen Nguyen, Thi Hong Thuy Dao, Nhat Thang Tran, Hoai-Nghia Nguyen, Hong Anh Thi Pham, Nien Vinh Lam, Quynh Tho Thi Nguyen, Dinh Kiet Truong, Thu Huong Nhat Trinh, Ngoc Mai Nguyen, Phuong Cao Thi Ngoc, Thanh Binh Vo, Hoang Giang Vu, Phuong Anh Ngoc Vo, Quynh Tram Nguyen Bui, Hoa Giang, Ngoc Hieu Tran |
| المصدر: | Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020) Scientific Reports |
| بيانات النشر: | Nature Publishing Group, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | medicine.medical_specialty, Genotype, Molecular biology, Noninvasive Prenatal Testing, Vietnamese, Population, lcsh:Medicine, Biology, Polymorphism, Single Nucleotide, Article, DNA sequencing, Asian People, Gene Frequency, Pregnancy, Genetic variation, Genetics, medicine, Humans, Genetic Testing, education, lcsh:Science, Allele frequency, Alleles, Genetic association, education.field_of_study, Multidisciplinary, lcsh:R, language.human_language, Computational biology and bioinformatics, Phenotype, Vietnam, DNA profiling, Evolutionary biology, language, Medical genetics, Female, lcsh:Q, Genome-Wide Association Study |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 2045-2322 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86e3c256f8707bd5b3aa982526b8cd5 http://link.springer.com/article/10.1038/s41598-020-76245-5 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....a86e3c256f8707bd5b3aa982526b8cd5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20452322 |
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