Preliminary results on the whole genome analysis of a Vietnamese individual

We present preliminary results on the whole genome analysis of an anonymous Vietnamese individual of the Kinh ethnic group (KHV) that was deeply sequenced to 30-fold using the Illumina sequencing machines. The sequenced genome covered of the human reference genome (GRCh37). | VNU Journal of Science: Comp. Science & Com. Eng., Vol. 30, No. 3 (2014) 31-35 Preliminary Results on the Whole Genome Analysis of a Vietnamese Individual Dang Thanh Hai1, Nguyen Dai Thanh1, Pham Thi Minh Trang1, Dang Cao Cuong1, Hoang Kim Phuc1, Son Bao Pham1, Le Sy Vinh1,*, Le Si Quang2, Phan Thi Thu Hang2, Do Duc Dong3, Nguyen Huu Duc4 1 University of Engineering and Technology, Vietnam National University Hanoi 2 Wellcome Trust Center for Human Genetics, Oxford University, UK 3 Institute of Information Technology, Vietnam National University Hanoi 4 High Performance Computing Center, Hanoi University of Science and Technology Abstract We present preliminary results on the whole genome analysis of an anonymous Vietnamese individual of the Kinh ethnic group (KHV) that was deeply sequenced to 30-fold using the Illumina sequencing machines. The sequenced genome covered of the human reference genome (GRCh37). We discovered (1) million single polymorphism nucleotides (SNPs) of which 41,396 () were novel, (2) 654 thousand short indels of which 35,263 () were novel (., not present in the dbSNP and the 1000 genomes project databases). We also detected 10,611 large structural variants (length ≥ 100 bp). This study is our initial step toward large-scale genome projects on Vietnamese population. © 2014 Published by VNU Journal of Science. Manuscript communication: Received 18 February 2014, revised 25 March 2014, accepted 27 March 2014 Corresponding author: Le Sy Vinh, vinhls@ Keywords: High coverage whole genome sequencing, Variant analysis, Vietnamese human genome. e 1. Introduction The emerging advances of the next generation sequencing (NGS) technologies today have allowed the conduction of a variety of largescale sequencing projects, such as the 1000 genomes project [1, 2, 3], the 750 Netherlands genomes [4] or the 100 southeast Asian Malays genomes [5]. In addition, due to the low sequencing cost, a number of studies were provoked .

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