Article

Variant calling tool evaluation for variable size indel calling from next generation whole genome and targeted sequencing data

2021-07-15

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 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 comparativ...

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Literature Corpus work: b737efc5-1a35-54f6-aa62-b8d190e509e5
DOI: 10.1101/2021.07.15.452444

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