deepSNV

deepSNV is a statistical software tool to enhance the accuracy and reliability of mutation calling in cancer research, mainly when dealing with large cohorts subjected to targeted resequencing of cancer genes. DeepSNV is designed to detect clonal and subclonal mutations in cancer, addressing the statistical challenges involved in this process.

By leveraging the deep sequencing data, deepSNV precisely estimates local error profiles, thereby enabling the detection of mutations with exceptional sensitivity and specificity. The tool employs a probabilistic approach that incorporates prior knowledge about the distribution of variants, enhancing its ability to call cancer mutations accurately.

Topic

Sequencing

Detail

  • Operation: Variant calling

  • Software interface: Command-line user interface,Library

  • Language: R

  • License: The GNU General Public License v3.0

  • Cost: Free

  • Version name: 1.48.0

  • Credit: The Leukemia Lymphoma Society (LLS), the Kay Kendall Leukaemia Fund and the Wellcome Trust.

  • Input: -

  • Output: -

  • Contact: Moritz Gerstung moritz.gerstung@ebi.ac.uk

  • Collection: -

  • Maturity: Stable

Publications

  • Subclonal variant calling with multiple samples and prior knowledge.
  • Gerstung M, et al. Subclonal variant calling with multiple samples and prior knowledge. Subclonal variant calling with multiple samples and prior knowledge. 2014; 30:1198-204. doi: 10.1093/bioinformatics/btt750
  • https://doi.org/10.1093/bioinformatics/btt750
  • PMID: 24443148
  • PMC: PMC3998123

Download and documentation


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