JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes.

ABSTRACT: The Joint Open Genome and Omics Platform 1.0 (JoGo) is a global, long-read-based human haplotype database covering 19 194 MANE-standardized protein-coding genes. JoGo introduces a novel ACTG hierarchical nomenclature-A (amino acid), C (coding), T (transcript), and G (gene body)-that assigns numeric identifiers in descending order of global frequency. Using high-fidelity long-read sequencing, we assembled haplotype-resolved contigs for 258 globally sampled genomes, including 108 sequenced in-house. We cataloged 174 376 A-, 300 610 C-, 486 288 T-, and 3 695 204 G-level haplotypes (4 656 478 in total). Haplotype IDs are assigned once globally across all sequences, including those originating from GRCh38 and CHM13v2 reference assemblies, embedding reference haplotypes within the same frequency

SUBMITTER: Nagasaki M 

PROVIDER: S-EPMC12807767 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature