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  • Tran, Ngoc HieuUniversity of Waterloo,Gene Solutions (author)

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

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-11-05
  • Springer Science and Business Media LLC,2020

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:2b786269-f8a5-4098-96e4-19f754c744f5
  • https://lup.lub.lu.se/record/2b786269-f8a5-4098-96e4-19f754c744f5URI
  • https://doi.org/10.1038/s41598-020-76245-5DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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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Added entries (persons, corporate bodies, meetings, titles ...)

  • Vo, Thanh BinhGene Solutions,Medical Genetics Institute, Ho Chi Minh City (author)
  • Nguyen, Van ThongHung Vuong Hospital (author)
  • Tran, Nhat ThangUniversity Medical Center, Ho Chi Minh City (author)
  • Trinh, Thu Huong NhatTu Du Hospital (author)
  • Pham, Hong Anh ThiGene Solutions,Medical Genetics Institute, Ho Chi Minh City (author)
  • Dao, Thi Hong ThuyMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Nguyen, Ngoc MaiMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Van, Yen Linh ThiGene Solutions,Medical Genetics Institute, Ho Chi Minh City (author)
  • Tran, Vu UyenMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Vu, Hoang GiangMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Bui, Quynh Tram NguyenGene Solutions,Medical Genetics Institute, Ho Chi Minh City (author)
  • Vo, Phuong Anh NgocMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Nguyen, Huu NguyenGene Solutions,Medical Genetics Institute, Ho Chi Minh City (author)
  • Nguyen, Quynh Tho ThiMedical Genetics Institute, Ho Chi Minh City (author)
  • Do, Thanh Thuy ThiMedical Genetics Institute, Ho Chi Minh City (author)
  • Lam, Nien VinhHo Chi Minh City Medicine and Pharmacy University (author)
  • Ngoc, Phuong Cao ThiLund University,Lunds universitet,RNA och stamcellsbiologi,Forskargrupper vid Lunds universitet,RNA and Stem Cell Biology,Lund University Research Groups,Medical Genetics Institute, Ho Chi Minh City(Swepub:lu)ph4774ca (author)
  • Truong, Dinh KietMedical Genetics Institute, Ho Chi Minh City (author)
  • Nguyen, Hoai NghiaHo Chi Minh City Medicine and Pharmacy University (author)
  • Giang, HoaMedical Genetics Institute, Ho Chi Minh City,Gene Solutions (author)
  • Phan, Minh DuyUniversity of Queensland,Gene Solutions (author)
  • University of WaterlooGene Solutions (creator_code:org_t)

Related titles

  • In:Scientific Reports: Springer Science and Business Media LLC10:12045-2322

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