Annual Report 2021

Genomic Data Management Section

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 and plays a role in making 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 in genomic data received from genomic testing laboratories and hospitals for 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 documents, which we call the 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 (the latest version: v1.2.0), which was first released last year. We made publicly available 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 accept more gene testing panels, which are expected to increase, and smoothly run the system that generates C-CAT Findings documents from genomic data in the CATS format. Also, we will develop a program toolkit, catstools, to conveniently manipulate files in the CATS format.