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Article

Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data.

Scientific reports - 24 Feb 2017

Sandmann Sarah, de Graaf Aniek O, Karimi Mohsen, van der Reijden Bert A, Hellström-Lindberg Eva, Jansen Joop H, Dugas Martin

Abstract excerpt

Valid variant calling results are crucial for the use of next-generation sequencing in clinical routine. However, there are numerous variant calling tools that usually differ in algorithms, filtering strategies, recommendations and thus, also in the output. We evaluated eight open-source tools regarding their ability to call single nucleotide variants and short indels with allelic frequencies as low as 1% in...

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PMID: 28233799
DOI: 10.1038/srep43169
PMCID: PMC5324109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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