DeTiN: overcoming tumor-in-normal contamination.
Where this comes from
- Record sourced from PubMed, PMID 29941871.
- Also identified by DOI 10.1038/s41592-018-0036-9 and PMC identifier 6528031.
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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.
Medical subject headings
- High-Throughput Nucleotide Sequencing
- Neoplasms
- Sequence Analysis, DNA