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Bioinformatics. 2013 Aug 1;29(15):1908-9. doi: 10.1093/bioinformatics/btt305. Epub 2013 May 27.

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

Author information

1
Bioinformatics Graduate Program, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, USA.

Abstract

SUMMARY:

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.

AVAILABILITY:

Freely available on the web at http://sourceforge.net/projects/mutascope/.

CONTACT:

oharismendy@ucsd.edu

SUPPLEMENTARY INFORMATION:

Supplementary data are available at Bioinformatics online.

PMID:
23712659
PMCID:
PMC3712217
DOI:
10.1093/bioinformatics/btt305
[Indexed for MEDLINE]
Free PMC Article

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