講演情報
[O22-4]がん遺伝子パネル検査解析支援ソフトウェア「Varporter」の開発とその応用
○井戸川 雅史, 平野 朋美, 丹下 正一朗, 時野 隆至 (札幌医科大学 医学部 附属フロンティア医学研究所 ゲノム医科学部門)
The results of cancer gene panel test using tumor sample only (Tumor-only test) include not only somatic mutations but also germline variants which are called presumed germline pathogenic variant (PGPV). However, many facilities are facing difficulties for the evaluation, because huge amount of manual curation is required and human resources for this is also insufficient. Therefore, we have developed a software, Varporter which helps to evaluate the results of tumor-only test, FoundationOne CDx. Varporter can process xml files and import various information such as case ID, sample information. SNV, CNV, fusion genes, microsatellite, and TMB, and automatically make links to various websites such as UCSC Genome Browser, Varsome, TogoVar, gnomAD, and so on. Genes can be filtered by the recommendation levels of germline variant disclosure formulated by Kosugi research group in Japan. Varporter can also import the results of various annotation analysis including ClinVar, allele frequency in healthy population such as ToMMo, SIFT, Polyphen2, COSMIC and so on. From the above function, Varporter can automate and streamline troublesome manual processes.