Mutascope

Mutascope is an advanced software tool specifically developed to identify somatic variants present at a low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal specimens. This sequencing analysis pipeline is extremely efficient and has proven to be a valuable asset in the field of bioinformatics. Using datasets reproducing tumor genetic heterogeneity, Mutascope has demonstrated a higher sensitivity and generates fewer false-positive calls than tools designed for shotgun sequencing or diploid genomes.

The superior performance of Mutascope can be attributed to its ability to accurately identify somatic variants present in low-allelic fractions, which is particularly useful in the analysis of tumor samples. The software tool has been designed to be highly intuitive and user-friendly, even for those with limited bioinformatics expertise. It provides a comprehensive sequencing data analysis, allowing researchers to easily identify and characterize somatic variants in their samples.

Mutascope is freely available on the web at [http://sourceforge.net/projects/mutascope/](http://sourceforge.net/projects/mutascope/). This means anyone can access and use the software tool, making it an incredibly valuable resource for the bioinformatics community. In addition, supplementary data are available at Bioinformatics online, providing users with additional information and resources to aid their research.

Topic

Oncology;Workflows

Detail

  • Operation: Variant calling

  • Software interface: Suite

  • Language: Perl;Mature

  • License: -

  • Cost: Free

  • Version name: 1.0.2

  • Credit: National Cancer Institute, NCATS, NIH Center of Excellence Grant to the San Diego Center for Systems Biology.

  • Input: FASTQ, BED

  • Output: VCF, *.txt

  • Contact: yostshawn@gmail.com

  • Collection: -

  • Maturity: -

Publications

  • Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.
  • Yost SE, et al. Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing. Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing. 2013; 29:1908-9. doi: 10.1093/bioinformatics/btt305
  • https://doi.org/10.1093/bioinformatics/btt305
  • PMID: 23712659
  • PMC: PMC3712217

Download and documentation


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