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PureCN: copy number calling and SNV classification using targeted short read sequencing

1 Dec 2016

Abstract excerpt

BACKGROUND: Matched sequencing of both tumor and normal tissue is routinely used to classify variants of uncertain significance (VUS) into somatic vs. germline. However, assays used in molecular diagnostics focus on known somatic alterations in cancer genes and often only sequence tumors. Therefore, an algorithm that reliably classifies variants would be helpful for retrospective exploratory analyses....

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PMID: 27999612
DOI: 10.1186/s13029-016-0060-z

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