Article

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

2024-02-16

Abstract excerpt

Motivation Alignment of reads to a reference genome sequence is one of the key steps in the analysis of human NGS whole-genome sequencing data. 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 (GWAS), depends on the correct identification of the position of the read as a result of its alignment...

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Literature Corpus work: ee898e53-1d87-5434-bca8-ce3b5d767d1b
DOI: 10.21203/rs.3.rs-3953362/v1

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