Supporting data for Long-read whole-genome sequencing identifies a novel OPN1LW/OPN1MW gene cluster deletion in a Japanese family with blue cone monochromacy

Description

This dataset contains de-identified, derived genomic materials supporting the study entitled “Long-read whole-genome sequencing identifies a novel OPN1LW/OPN1MW gene cluster deletion in a Japanese family with blue cone monochromacy.” PacBio HiFi long-read whole-genome sequencing and de novo assembly identified a 128,168-bp deletion, chrX:g.154149222_154277389del (GRCh38), extending from intron 1 of OPN1LW through the OPN1MW gene array and into the TEX28 locus, while preserving the upstream locus control region. The deposited files include a README file, a description of the analysis workflow and software versions, a tab-delimited summary of the identified structural variant, and derived visualisations of the assembly-to-reference comparison, breakpoint analysis, and familial segregation. Individual-level raw sequencing reads, participant-derived assembled contig sequence files, genome-wide variant calls, and clinical source data are not included because of privacy and ethical considerations. Genome coordinates are based on the GRCh38/hg38 human reference genome. The deposited files contain no names, medical record numbers, dates of birth, contact information, internal sample identifiers, raw sequencing files, assembled contig FASTA files, or other machine-readable participant-derived nucleotide sequence data.

Institutions

• Jikei University School of Medicine

  Tokyo, Tokyo
• Tokyo Medical Center

  Tokyo, Tokyo
• Kindai University

  Osaka, Osaka

Categories

Funders

• Japan Society for the Promotion of Science

  Ministry of Education, Culture, Sports, Science and Technology

  Tokyo, Tokyo
• Ministry of Health Labour and Welfare

  Tokyo, Tokyo
• Alcon (Japan)

  Alcon (Switzerland)

  Tokyo, Tokyo

  Grant ID: 2026-R-029
• Japan Agency for Medical Research and Development

  Tokyo, Tokyo

Licence