A computational framework to analyze human genomes

Vinh Le
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Authors

  • Vinh Le VNU University of Engineering and Technology

DOI:

https://doi.org/10.15625/1813-9663/35/2/13827

Keywords:

Human genome sequencing, bioinformatics, human genome analyses, single nucleotide variants, structural variants, variant annotation.

Abstract

The advent of genomic technologies has led to the current genomic era. Large-scale human genome projects have resulted in a huge amount of genomic data. Analyzing human genomes is a challenging task including a number of key steps from short read alignment, variant calling, and variant annotating. In this paper, the state-of-the-art computational methods and databases for each step will be analyzed to suggest a practical and efficient guideline for whole human genome analyses. This paper also discusses frameworks to combine variants from various genome analysis pipelines to obtain reliable variants. Finally, we will address advantages as well as discordances of widely-used variant annotation methods to evaluate the clinical significance of variants. The review will empower bioinformaticians to efficiently perform human genome analyses, and more importantly, help genetic consultants understand and properly interpret mutations for clinical purposes.

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Published

03-06-2019

How to Cite

[1]
V. Le, “A computational framework to analyze human genomes”, JCC, vol. 35, no. 2, p. 105–118, Jun. 2019.

Issue

Section

Computer Science