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- Title
Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.
- Authors
Yost, Shawn E.; Alakus, Hakan; Matsui, Hiroko; Schwab, Richard B.; Jepsen, Kristen; Frazer, Kelly A.; Harismendy, Olivier
- 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.eduSupplementary information: Supplementary data are available at Bioinformatics online.
- Subjects
BIOINFORMATICS; INFORMATION science; COMPUTERS in medicine; TUMORS; COMPUTATIONAL biology
- Publication
Bioinformatics, 2013, Vol 29, Issue 15, p1908
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/btt305