Annual Report 2022
Section of Genomic Data Management
Mamoru Kato, Daichi Narushima, Eisaku Furukawa, Jo Nishino
Introduction
The Section of Genomic Data Management is responsible for developing and operating the system for genomic data management. It plays a crucial role in creating C-CAT Findings documents (testing annotation documents produced by C-CAT for cancer genomic testing) by performing the following functions:
- Development and operation of the system that annotates gene information into genomic data received from genomic testing laboratories and hospitals for creating C-CAT Findings documents
- Organization, maintenance, and management of obtained genomic data
- Development of a standardized format for testing annotation documents such as the C-CAT Findings document, which we call CATS (CAncer genomic Test Standardized) format, as introduced in the following section
- Development of bioinformatics software, "catstools," that operates the CATS format
Research Activities
We revised the CATS format, with the latest version being v1.3.0. We updated the manual of testing procedures for the CATS format, based on which a test is performed to check if CATS formatted-files are correctly processed to generate C-CAT Findings documents, before C-CAT accepts new gene testing panels or major changes of gene testing panels.
Future Prospects
We will continuously revise the CATS format to accommodate an increasing number of gene testing panels, and maintain the system's smooth operation for generating C-CAT Findings documents from genomic data in CATS format. Also, we will continue to develop a program toolkit, catstools, to facilitate the convenient manipulation of files in CATS format.