Enhancing SNV identification in whole-genome sequencing data through the incorporation of known genetic variants into the minimap2 index.

ABSTRACT:

Motivation

Alignment of reads to a reference genome sequence is one of the key steps in the analysis of human whole-genome sequencing data obtained through Next-generation sequencing (NGS) technologies. The quality of the subsequent steps of the analysis, such as the results of clinical interpretation of genetic variants or the results of a genome-wide association study, depends on the correct identification of the position of the read as a result of its alignment. The amount of human NGS whole-genome sequencing data is constantly growing. There are a number of human genome sequencing projects worldwide that have resulted in the creation of large-scale databases of genetic variants of sequenced human genomes. Such information about known genetic variants can be used to improve the

SUBMITTER: Guguchkin E 

PROVIDER: S-EPMC11246581 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature