NAR-GAB 2025 deposit data
Paired-end whole-exome sequencing data derived from Illumina hybrid-capture experiments (Agilent SureSelect Human All Exon kits). Six human probands with rare diseases; one sample per subject. Sequencing reads from each individual were processed into analysis-ready gVCF files following standard best-practice pipelines, including alignment, duplicate marking, base quality calibration, and variant calling. All gVCF files are encrypted using Crypt4GH and are available under controlled access through our DAC in accordance with a strict DUO-based policy.
- 22/12/2025
- 6 samples
- DAC: EGAC50000000770
- Technology: Illumina HiSeq 2500
DUO:0000006 version: 2021-02-23
health or medical or biomedical research
This data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.
DUO:0000016 version: 2021-02-23
genetic studies only
This data use modifier indicates that use is limited to genetic studies only (i.e., studies that include genotype research alone or both genotype and phenotype research, but not phenotype research exclusively)
DUO:0000021 version: 2021-02-23
ethics approval required
This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.
DUO:0000044 version: 2021-02-23
population origins or ancestry research prohibited
This data use modifier indicates use for purposes of population, origin, or ancestry research is prohibited.
DUO:0000046 version: 2021-02-23
non-commercial use only
This data use modifier indicates that use of the data is limited to not-for-profit use.
YCU Human Genetics DAC Policy – Rare Disease Exome gVCF (Strict, Non-Commercial)
This dataset comprises Crypt4GH-encrypted paired-end whole-exome gVCF files from six human probands affected by rare diseases. Access is controlled by the Yokohama City University (Dept. of Human Genetics) Data Access Committee (DAC). Approved users must: • Use the data solely for health/medical/biomedical research consistent with participants’ consent and the DUO terms listed below. • Obtain and maintain local IRB/ERB approval and provide documentation upon request. • Use the data for non-commercial purposes only; no use by or for commercial entities and no commercialization of derivatives. • Limit analyses to genetic studies; population origins/ancestry research is not permitted. • No re-identification attempts; do not share or sublicense the data to third parties. • Store data on secure, access-controlled systems; promptly report any suspected or actual data breach to the DAC. • Destroy local copies when the approved project ends or at the end of the authorized period unless an extension is granted by the DAC. • Acknowledge the dataset accession and the DAC in resulting publications. The DAC evaluates each request case-by-case and may impose additional conditions or reject applications that do not align with consent or ethical approvals.
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS50000001456 | Exome Sequencing |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Quality Report |
Located in
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| EGAF50000507718 | vcf.gz | 134.8 MB |
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| EGAF50000507719 | vcf.gz | 187.2 MB |
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| EGAF50000507720 | vcf.gz | 177.8 MB |
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| EGAF50000507721 | vcf.gz | 174.1 MB |
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| EGAF50000507722 | vcf.gz | 189.5 MB |
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| EGAF50000507723 | vcf.gz | 263.5 MB |
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| 6 Files (1.1 GB) | ||||
