Annual Report 2023

Section of Genomic Data Management

Mamoru Kato, Eisaku Furukawa, Jo Nishino, Momoko Nagai

Introduction

 The Section of Genomic Data Management is responsible for developing and operating the system for genomic data management. It plays a role in creating C-CAT Findings documents (testing annotation documents produced by C-CAT for cancer genomic profiling tests) 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
• Development of bioinformatics software (“catstools”) that operates data in CATS format

Research Activities

 We updated the CATS format (the latest version: v1.3.x). We handled the introduction of new gene testing panels and the updates of existing ones so that C-CAT Findings documents could be accordingly generated.

Future Prospects

 We will continuously handle the introduction of new gene testing panels and the updates of existing ones. We will continue to update CATS format to accept more gene testing panels, which enables the smooth operation of the system that generates C-CAT Findings documents from genomic data in CATS format. Also, we will develop a program toolkit, catstools, to conveniently manipulate data in CATS format.