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Nat Methods DOI:10.1038/s41592-018-0036-9

DeTiN: overcoming tumor-in-normal contamination.

Publication TypeJournal Article
Year of Publication2018
AuthorsTaylor-Weiner, A, Stewart, C, Giordano, T, Miller, M, Rosenberg, M, Macbeth, A, Lennon, N, Rheinbay, E, Landau, D-A, Wu, CJ, Getz, G
JournalNat Methods
Date Published2018 Jun 25

Comparison of sequencing data from a tumor sample with data from a matched germline control is a key step for accurate detection of somatic mutations. Detection sensitivity for somatic variants is greatly reduced when the matched normal sample is contaminated with tumor cells. To overcome this limitation, we developed deTiN, a method that estimates the tumor-in-normal (TiN) contamination level and, in cases affected by contamination, improves sensitivity by reclassifying initially discarded variants as somatic.


Alternate JournalNat. Methods
PubMed ID29941871