DeTiN: overcoming tumor-in-normal contamination
| Autor: | Dan-Avi Landau, Catherine J. Wu, Chip Stewart, Mara Rosenberg, Alyssa Macbeth, Mendy Miller, Amaro Taylor-Weiner, Gad Getz, Thomas J. Giordano, Niall J. Lennon, Esther Rheinbay |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Somatic cell Sequencing data Tumor cells Biology medicine.disease_cause Biochemistry Article Tumor Sample Germline 03 medical and health sciences Neoplasms medicine Humans Computer Simulation Molecular Biology Mutation High-Throughput Nucleotide Sequencing Sequence Analysis DNA Cell Biology Contamination 030104 developmental biology 13. Climate action Neoplasms diagnosis Cancer research Biotechnology |
| Zdroj: | Nature methods |
| ISSN: | 1548-7105 1548-7091 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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