Ontology highlight
ABSTRACT:
SUBMITTER: Taylor-Weiner A
PROVIDER: S-EPMC6528031 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Taylor-Weiner Amaro A Stewart Chip C Giordano Thomas T Miller Mendy M Rosenberg Mara M Macbeth Alyssa A Lennon Niall N Rheinbay Esther E Landau Dan-Avi DA Wu Catherine J CJ Getz Gad G
Nature methods 20180625 7
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 vari ...[more]