eprintid: 3733
rev_number: 8
eprint_status: archive
userid: 326
dir: disk0/00/00/37/33
datestamp: 2019-12-07 07:12:23
lastmod: 2019-12-07 07:12:23
status_changed: 2019-12-07 07:12:23
type: article
metadata_visibility: show
creators_name: Le, Vinh
creators_name: Tran, Kien
creators_name: Bui, Hoa
creators_name: Le, Huong
creators_name: Nguyen, Canh
creators_name: Do, Duong
creators_name: Ly, Ha
creators_name: Pham, Ly
creators_name: Dao, Lan
creators_name: Nguyen, Liem
creators_id: vinhls@vnu.edu.vn
title: A Vietnamese human genetic variation database
ispublished: pub
subjects: IT
divisions: fac_fit
abstract: Large scale human genome projects have created tremendous human genome databases for some well‐studied populations. Vietnam has about 95 million people (the 14th largest country by population in the world) of which more than 86% are Kinh people. To date, genetic studies for Vietnamese people mostly rely on genetic information from other populations. Building a Vietnamese human genetic variation database is a must for properly interpreting Vietnamese genetic variants. To this end, we sequenced 105 whole genomes and 200 whole exomes of 305 unrelated Kinh Vietnamese (KHV) people. We also included 101 other previously published KHV genomes to build a Vietnamese human genetic variation database of 406 KHV people. The KHV database contains 24.81 million variants (22.47 million single nucleotide polymorphisms (SNPs) and 2.34 million indels) of which 0.71 million variants are novel. It includes more than 99.3% of variants with a frequency of >1% in the KHV population. Noticeably, the KHV database revealed 107 variants reported in the human genome mutation database as pathological mutations with a frequency above 1% in the KHV population. The KHV database (available at https://genomes.vn) would be beneficial for genetic studies and medical applications not only for the Vietnamese population but also for other closely related populations.
date: 2019-10
date_type: published
publisher: Wiley
full_text_status: public
publication: Human Mutation
volume: 40
number: 10
pagerange: 1664-1675
refereed: TRUE
issn: 1098-1004
citation:   Le, Vinh and Tran, Kien and Bui, Hoa and Le, Huong and Nguyen, Canh and Do, Duong and Ly, Ha and Pham, Ly and Dao, Lan and Nguyen, Liem  (2019) A Vietnamese human genetic variation database.  Human Mutation, 40  (10).   pp. 1664-1675.  ISSN 1098-1004     
document_url: https://eprints.uet.vnu.edu.vn/eprints/id/eprint/3733/1/Le_et_al-2019-Human_Mutation.pdf