<p>The use of comprehensive genomic profiling (CGP) in cancer, also known as cancer gene panel tests, continues to expand; however, the interpretation of the results of these tests requires a tremendous amount of manual work. To improve the efficiency of this evaluation process, we developed the CGP support software named Varporter. This software automatically imports multiple data files and can display various information contained within the CGP results. In tumor-only tests, <i>TP53</i> variants often require pathogenicity evaluation as presumed germline pathogenic variants. Varporter enables the automated determination of several criteria in the Variant Interpretation Guidelines established by the ClinGen <i>TP53</i> Variant Curation Expert Panel. Direct links to the websites on therapeutic evidence are also automatically generated from each variant, and multiple test reports can be summarized onto a single sheet, thus making it easy to review newly added variants to clinical trials. Varporter has made it possible to automate and streamline complicated manual tasks related to CGP evaluation and to redirect human resources to more essential tasks. Varporter is designed for use with two CGP tests covered by Japanese national health insurance, FoundationOne CDx and Guardant360 CDx.</p>

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Varporter: a software platform for comprehensive genomic profiling (CGP) in cancer

  • Masashi Idogawa,
  • Kohichi Takada,
  • Tasuku Mariya,
  • Aki Ishikawa,
  • Satoshi Iyama,
  • Tsuyoshi Saito,
  • Hiroshi Nakase,
  • Masayoshi Kobune,
  • Akihiro Sakurai

摘要

The use of comprehensive genomic profiling (CGP) in cancer, also known as cancer gene panel tests, continues to expand; however, the interpretation of the results of these tests requires a tremendous amount of manual work. To improve the efficiency of this evaluation process, we developed the CGP support software named Varporter. This software automatically imports multiple data files and can display various information contained within the CGP results. In tumor-only tests, TP53 variants often require pathogenicity evaluation as presumed germline pathogenic variants. Varporter enables the automated determination of several criteria in the Variant Interpretation Guidelines established by the ClinGen TP53 Variant Curation Expert Panel. Direct links to the websites on therapeutic evidence are also automatically generated from each variant, and multiple test reports can be summarized onto a single sheet, thus making it easy to review newly added variants to clinical trials. Varporter has made it possible to automate and streamline complicated manual tasks related to CGP evaluation and to redirect human resources to more essential tasks. Varporter is designed for use with two CGP tests covered by Japanese national health insurance, FoundationOne CDx and Guardant360 CDx.