Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing

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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.

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