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Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.


ABSTRACT: We present Mutascope, a sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimen. Using datasets reproducing tumor genetic heterogeneity, we demonstrate that Mutascope has a higher sensitivity and generates fewer false-positive calls than tools designed for shotgun sequencing or diploid genomes.Freely available on the web at http://sourceforge.net/projects/mutascope/.oharismendy@ucsd.eduSupplementary data are available at Bioinformatics online.

SUBMITTER: Yost SE 

PROVIDER: S-EPMC3712217 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.

Yost Shawn E SE   Alakus Hakan H   Matsui Hiroko H   Schwab Richard B RB   Jepsen Kristen K   Frazer Kelly A KA   Harismendy Olivier O  

Bioinformatics (Oxford, England) 20130527 15


<h4>Summary</h4>We present Mutascope, a sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimen. Using datasets reproducing tumor genetic heterogeneity, we demonstrate that Mutascope has a higher sensitivity and generates fewer false-positive calls than tools designed for shotgun sequencing or diploid genomes.<h4>Availability</h4>Freely available  ...[more]

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