DeTiN: Overcoming Tumor-In-Normal Contamination

Nat Methods. 2018 Jul;15(7):531-534. doi: 10.1038/s41592-018-0036-9. Epub 2018 Jun 25.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computer Simulation
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Mutation
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Sequence Analysis, DNA / methods*