SoloDel

SoloDel is a computational method that accurately detects somatic deletions from germline deletions even when there are no matched control samples available. It uses a probabilistic, somatic mutation progression model and a Gaussian mixture model to estimate the parameters of the mixed population of somatic and germline deletions. The accuracy of SoloDel in classifying somatic mutations is greatly improved when combined with conventional structural variation caller, and it can successfully recall experimentally validated somatic deletions.

Topic

Sequencing;DNA;Genetic variation

Detail

  • Operation: Variant calling

  • Software interface: Command-line user interface

  • Language: Java

  • License: Not stated

  • Cost: Free

  • Version name: 1.0.0

  • Credit: Bio-Synergy Research Project of the Ministry of Science, ICT and Future Planning through the National Research Foundation and a faculty research grant of Yonsei University College of Medicine.

  • Input: -

  • Output: -

  • Contact: Sangwoo Kim swkim@yuhs.ac, Doheon Lee dhlee@biosoft.kaist.ac.kr

  • Collection: -

  • Maturity: -

Publications

  • SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data.
  • Kim J, et al. SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data. SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data. 2015; 31:3105-13. doi: 10.1093/bioinformatics/btv358
  • https://doi.org/10.1093/bioinformatics/btv358
  • PMID: 26071141
  • PMC: -

Download and documentation


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