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Article

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

BMC bioinformatics - 13 Jul 2024

Guguchkin Egor, Kasianov Artem, Belenikin Maksim, Zobkova Gaukhar, Kosova Ekaterina, Makeev Vsevolod, Karpulevich Evgeny

Abstract excerpt

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...

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Identifiers

PMID: 39003441
DOI: 10.1186/s12859-024-05862-y
PMCID: PMC11246581

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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