eprintid: 2531
rev_number: 5
eprint_status: archive
userid: 15
dir: disk0/00/00/25/31
datestamp: 2017-06-16 03:45:47
lastmod: 2017-06-16 03:45:47
status_changed: 2017-06-16 03:45:47
type: article
metadata_visibility: show
creators_name: Dang, Hai
creators_name: Nguyen, Thanh
creators_name: Pham, Minh Trang
creators_name: Dang, Cuong
creators_name: Hoang, Phuc
creators_name: Pham, Son
creators_name: Le, Vinh
creators_name: Le, Quang
creators_name: Phan, Hang
creators_name: Do, Dong
creators_name: Nguyen, Duc
title: Preliminary results on the whole genome analysis of a Vietnamese individual
ispublished: pub
subjects: IT
abstract: We present some preliminary results on the whole genome analysis of an anonymous Kinh Vietnamese (KHV) individual that was deeply sequenced to 34-fold using the Illumina sequencing technology. The sequenced genome covered 99.85 of the human reference genome (GRCh37). We discovered (1) 3408825 single polymorphism nucleotides (SNPs) of which 41396 (1.2) were novel, (2) 654024 short indels of which 35263 (5.4) were novel, i.e. not present in the dbSNP and 1000 genomes project databases. We also detected 10611 large SVs (the length ≥ 100bp) of four types, i.e. large indels (90.6), the inter-chromosomal translocations (3.1), the inversions (3.4) and the intra-chromosomal translocations (2.9). This study is our initial step toward large-scale projects on Vietnamese population.
date: 2014
date_type: published
official_url: http://www.jcsce.vnu.edu.vn/index.php/jcsce/article/view/45
full_text_status: none
publication: VNU Journal of Science: Computer Science and Communication Engineering
volume: 30
number: 3
refereed: TRUE
citation:   Dang, Hai and Nguyen, Thanh and Pham, Minh Trang and Dang, Cuong and Hoang, Phuc and Pham, Son and Le, Vinh and Le, Quang and Phan, Hang and Do, Dong and Nguyen, Duc  (2014) Preliminary results on the whole genome analysis of a Vietnamese individual.  VNU Journal of Science: Computer Science and Communication Engineering, 30  (3).