TY  - JOUR
ID  - SisLab2086
UR  - https://eprints.uet.vnu.edu.vn/eprints/id/eprint/2086/
IS  - 3
A1  - Dang, Thanh Hai
A1  - Nguyen, Dai Thanh
A1  - Pham, Thi Minh Trang
A1  - Dang, Cao Cuong
A1  - Hoang, Kim Phuc
A1  - Pham, Bao Son
A1  - Le, Sy Vinh
A1  - Le, Si Quang
A1  - Phan, Thi Thu Hang
A1  - Do, Duc Dong
Y1  - 2014///
N2  - 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.
PB  - VNU Journal of Science
JF  - VNU Journal of Computer Science and Communication Engineering
VL  - 30
SN  - 0866-8612
TI  - Preliminary results on the whole genome analysis of a Vietnamese individual
SP  - 31
AV  - none
EP  - 35
ER  -