DeTiN : Overcoming Tumor in Normal Contamination

A key step in achieving accurate detection of somatic mutations is comparison of sequencing data from a tumor sample to its matched germline control. Sensitivity to detect somatic variants is greatly reduced when the matched normal sample is contaminated with tumor cells. To overcome this limitation...

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Detalles Bibliográficos
Autores principales: Taylor-Weiner, Amaro, Stewart, Chip, Giordano, Thomas, Miller, Mendy, Rosenberg, Mara, Macbeth, Alyssa, Lennon, Niall, Rheinbay, Esther, Landau, Dan-Avi, Wu, Catherine J., Getz, Gad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528031/
https://www.ncbi.nlm.nih.gov/pubmed/29941871
http://dx.doi.org/10.1038/s41592-018-0036-9
Descripción
Sumario:A key step in achieving accurate detection of somatic mutations is comparison of sequencing data from a tumor sample to its matched germline control. Sensitivity to detect 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 first estimates the tumor-in-normal contamination (TiN) level, and then, in contaminated cases, improves sensitivity by reclassifying initially discarded variants as somatic.

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