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Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data.

PLoS computational biology - 1 Feb 2022

Wang Ning, Lysenkov Vladislav, Orte Katri, Kairisto Veli, Aakko Juhani, Khan Sofia, Elo Laura L

Abstract excerpt

Insertions and deletions (indels) in human genomes are associated with a wide range of phenotypes, including various clinical disorders. High-throughput, next generation sequencing (NGS) technologies enable the detection of short genetic variants, such as single nucleotide variants (SNVs) and indels. However, the variant calling accuracy for indels remains considerably lower than for SNVs. Here we present a...

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PMID: 35176018
DOI: 10.1371/journal.pcbi.1009269
PMCID: PMC8916674

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