A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

A key constraint in genomic testing in oncology is that matched normal specimens are not commonly obtained in clinical practice. Thus, while well-characterized genomic alterations do not require normal tissue for interpretation, a significant number of alterations will be unknown in whether they are...

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Bibliographic Details
Main Authors: James X Sun, Yuting He, Eric Sanford, Meagan Montesion, Garrett M Frampton, Stéphane Vignot, Jean-Charles Soria, Jeffrey S Ross, Vincent A Miller, Phil J Stephens, Doron Lipson, Roman Yelensky
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-02-01
Series:PLoS Computational Biology
Online Access:http://europepmc.org/articles/PMC5832436?pdf=render

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http://europepmc.org/articles/PMC5832436?pdf=render

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