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Preliminary results on the whole genome analysis of a Vietnamese individual

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

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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.

Item Type: Article
Subjects: Information Technology (IT)
Divisions: Faculty of Information Technology (FIT)
Depositing User: Thanh Hải Đặng
Date Deposited: 05 Dec 2016 03:40
Last Modified: 05 Dec 2016 03:40
URI: http://eprints.uet.vnu.edu.vn/eprints/id/eprint/2086

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