TY  - JOUR
ID  - SisLab2531
UR  - http://www.jcsce.vnu.edu.vn/index.php/jcsce/article/view/45
IS  - 3
A1  - Dang, Hai
A1  - Nguyen, Thanh
A1  - Pham, Minh Trang
A1  - Dang, Cuong
A1  - Hoang, Phuc
A1  - Pham, Son
A1  - Le, Vinh
A1  - Le, Quang
A1  - Phan, Hang
A1  - Do, Dong
A1  - Nguyen, Duc
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.
JF  - VNU Journal of Science: Computer Science and Communication Engineering
VL  - 30
TI  - Preliminary results on the whole genome analysis of a Vietnamese individual
AV  - none
ER  -