JoGo-Next: Construction of a Human Haplotype Database for International Standards and AI Utilization

In progress
Database Integration Coordination Program (DICP)
Projects funded in FY 2026-Fostering

NAGASAKI Masao

Professor, Medical Institute of Bioregulation, Kyushu University

We will further expand the “JoGo” database of human gene haplotypes based on the ACTG hierarchical nomenclature. Specifically, we will: (1) add new haplotype dictionaries for non-coding genes and regulatory regions; (2) incorporate sequence structures of medically relevant multigene clusters, including duplicate regions and copy number variations, using in-house and international telomere-to-telomere (T2T) resources; (3) enhance the dictionaries by increasing the number of reference individuals; (4) develop methods to estimate haplotypes from short-read whole-genome sequencing and release population-level haplotype statistics in Japan and worldwide; (5) semi-automate data updating, quality control, and annotation using AI agents; and (6) strengthen international collaboration. Through these efforts, we aim to establish JoGo-Next as the international de facto standard for haplotype databases and to advance research in genome science and genetic diseases.