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

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

[e-mail]

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Yost SE 

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

REPOSITORIES: biostudies-literature