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.edu Supplementary data are available at Bioinformatics online.