eprintid: 3525
rev_number: 6
eprint_status: archive
userid: 326
dir: disk0/00/00/35/25
datestamp: 2019-06-20 22:43:51
lastmod: 2019-06-20 22:43:51
status_changed: 2019-06-20 22:43:51
type: article
metadata_visibility: show
creators_name: Le, Vinh
creators_id: vinhls@vnu.edu.vn
title: A computational framework to analyze human genomes
ispublished: pub
subjects: IT
divisions: fac_fit
abstract: The advent of genomic technologies have led to the genomic era. The human genome consists of more than 3 billions of nucleotides and the large scale human genome projects resulted in a huge amount of genomic data. Analyzing human genomes is a challenging computational procedure including a number of key steps from aligning short reads, calling variants, and annotating variants.  This paper describes a framework to analyze  human genomes from the raw data to final results that can be used for diagnosing diseases in clinical tests.  We also analyzed 101 Vietnamese human genomes to propose a list of nucleotide sites that might result in false positive results when calling variants from single or few genomes.
date: 2019-05
date_type: published
publisher: Vietnam  Academy of Science & Technology
full_text_status: public
publication: Journal of Computer Science and Cybernetics
volume: 35
number: 14
pagerange: 105-118
refereed: TRUE
issn: 1813-9663
citation:   Le, Vinh  (2019) A computational framework to analyze human genomes.  Journal of Computer Science and Cybernetics, 35  (14).   pp. 105-118.  ISSN 1813-9663     
document_url: https://eprints.uet.vnu.edu.vn/eprints/id/eprint/3525/1/human_genome_analysis_2019.pdf