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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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
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author 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
author_facet 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
author_sort Taylor-Weiner, Amaro
collection PubMed
description 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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spelling pubmed-65280312019-05-21 DeTiN : Overcoming Tumor in Normal Contamination 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 Nat Methods Article 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. 2018-06-25 2018-07 /pmc/articles/PMC6528031/ /pubmed/29941871 http://dx.doi.org/10.1038/s41592-018-0036-9 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
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
DeTiN : Overcoming Tumor in Normal Contamination
title DeTiN : Overcoming Tumor in Normal Contamination
title_full DeTiN : Overcoming Tumor in Normal Contamination
title_fullStr DeTiN : Overcoming Tumor in Normal Contamination
title_full_unstemmed DeTiN : Overcoming Tumor in Normal Contamination
title_short DeTiN : Overcoming Tumor in Normal Contamination
title_sort detin : overcoming tumor in normal contamination
topic Article
url 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
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