Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing

作者：Yost Shawn E; Alakus Hakan; Matsui Hiroko; Schwab Richard B; Jepsen Kristen; Frazer Kelly A; Harismendy Olivier^*

来源：Bioinformatics, 2013, 29(15): 1908-1909.

DOI：10.1093/bioinformatics/btt305

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.

• 出版日期2013-8-1