eprintid: 2086 rev_number: 8 eprint_status: archive userid: 327 dir: disk0/00/00/20/86 datestamp: 2016-12-05 03:40:11 lastmod: 2016-12-05 03:40:11 status_changed: 2016-12-05 03:40:11 type: article metadata_visibility: show creators_name: Dang, Thanh Hai creators_name: Nguyen, Dai Thanh creators_name: Pham, Thi Minh Trang creators_name: Dang, Cao Cuong creators_name: Hoang, Kim Phuc creators_name: Pham, Bao Son creators_name: Le, Sy Vinh creators_name: Le, Si Quang creators_name: Phan, Thi Thu Hang creators_name: Do, Duc Dong creators_id: hai.dang@vnu.edu.vn creators_id: sonpb@vnu.edu.vn creators_id: vinhls@vnu.edu.vn title: Preliminary results on the whole genome analysis of a Vietnamese individual ispublished: pub subjects: IT divisions: fac_fit 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 publisher: VNU Journal of Science full_text_status: none publication: VNU Journal of Computer Science and Communication Engineering volume: 30 number: 3 pagerange: 31-35 refereed: TRUE issn: 0866-8612 citation: 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