TADA

TADA' is a software tool designed to help identify potentially harmful genetic variations known as copy number variants (CNVs). It does this by using a combination of manual filtering and automated classification techniques, along with a comprehensive catalog of functional annotations and enrichment analyses. The tool has been shown to be highly accurate in predicting which CNVs are likely to be pathogenic, outperforming other available methods. This information can be useful for supporting clinical diagnoses and advancing our understanding of how larger genomic changes affect disease.

Topic

Machine learning;Copy number variation;Gene transcripts;Model organisms;Whole genome sequencing

Detail

  • Operation: Virulence prediction;Variant prioritisation;Variant classification

  • Software interface: Command-line interface

  • Language: Python,Shell

  • License: The MIT License

  • Cost: Free with restrictions

  • Version name: -

  • Credit: -

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  • Maturity: -

Publications

  • TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs.
  • Hertzberg J, et al. TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. 2022; 23:67. doi: 10.1186/s13059-022-02631-z
  • https://doi.org/10.1186/S13059-022-02631-Z
  • PMID: 35232478
  • PMC: PMC8886976

Download and documentation

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