Le, Vinh
(2019)
A computational framework to analyze human genomes.
Journal of Computer Science and Cybernetics, 35
(14).
pp. 105-118.
ISSN 1813-9663
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.
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