relation: https://eprints.uet.vnu.edu.vn/eprints/id/eprint/2086/
title: Preliminary results on the whole genome analysis of a Vietnamese individual
creator: Dang, Thanh Hai
creator: Nguyen, Dai Thanh
creator: Pham, Thi Minh Trang
creator: Dang, Cao Cuong
creator: Hoang, Kim Phuc
creator: Pham, Bao Son
creator: Le, Sy Vinh
creator: Le, Si Quang
creator: Phan, Thi Thu Hang
creator: Do, Duc Dong
subject: Information Technology (IT)
description: 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.
publisher: VNU Journal of Science
date: 2014
type: Article
type: PeerReviewed
identifier:   Dang, Thanh Hai and Nguyen, Dai Thanh and Pham, Thi Minh Trang and Dang, Cao Cuong and Hoang, Kim Phuc and Pham, Bao Son and Le, Sy Vinh and Le, Si Quang and Phan, Thi Thu Hang and Do, Duc Dong  (2014) Preliminary results on the whole genome analysis of a Vietnamese individual.  VNU Journal of Computer Science and Communication Engineering, 30  (3).   pp. 31-35.  ISSN 0866-8612