期刊
BIOINFORMATICS
卷 29, 期 15, 页码 1908-1909出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btt305
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资金
- National Cancer Institute [1R21CA155615-01A1, 1R21CA152613-01]
- NCATS [UL1RR031980]
- NIH Center of Excellence Grant [P50 GM085764]
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.
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