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VarScan: variant detection in massively parallel sequencing of individual and pooled samples.

Bioinformatics (Oxford, England) - 1 Sept 2009

Koboldt Daniel C, Chen Ken, Wylie Todd, Larson David E, McLellan Michael D, Mardis Elaine R, Weinstock George M, Wilson Richard K, Ding Li

Abstract excerpt

SUMMARY: Massively parallel sequencing technologies hold incredible promise for the study of DNA sequence variation, particularly the identification of variants affecting human disease. The unprecedented throughput and relatively short read lengths of Roche/454, Illumina/Solexa, and other platforms have spurred development of a new generation of sequence alignment algorithms. Yet detection of sequence variants...

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PMID: 19542151
DOI: 10.1093/bioinformatics/btp373
PMCID: PMC2734323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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