RPGR Cone-Rod Dystrophy WES Dataset
The paired FASTQ files represent a defined human RPGR cone-rod-dystrophy sequencing object.
At a glance
| Field | Value |
|---|---|
| Short name | dryad_rpgr_cone_rod_wes |
| Full name | RPGR Cone-Rod Dystrophy WES Dataset |
| First published | 2021-06-09 |
| Publication date precision | day |
| Publication date evidence | https://doi.org/10.5061/dryad.5qfttdz5d |
| Publication date source field | Published |
| Publication date reviewed | 2026-09-11 |
| Primary category | omics |
| Resource role | current_dataset |
| Dataset family | dryad_rpgr_cone_rod_wes |
| Contained modalities | omics |
| Tasks | classification |
| Primary reported quantity | 1 participants |
| Classes | Not reported (Not reported) |
| Splits | all |
| Size | 4.478968648 GB |
| Source-stated terms | https://spdx.org/licenses/CC0-1.0.html |
| Normalized terms | cc0 |
| Descriptive screening label | Standard label without an explicit NC clause; not a permission finding |
| Terms scope | dataset_files |
| Access friction | self_service_authenticated |
| Route backend | Dryad |
| Availability | available (checked 2026-08-01) |
| Acquisition support | standard_platform_supported |
| Legacy sample-loader status | Metadata and access only |
Reported quantities
| Role | Count | Unit | Scope | Basis | Evidence |
|---|---|---|---|---|---|
| Primary | 1 | participants | Proband represented by the paired whole-exome sequencing files The complete current Dryad version 2 deposit contains paired reads for one source-described proband. | official_source_description | https://doi.org/10.5061/dryad.5qfttdz5d |
| Additional | 2 | deposited_files | Paired FASTQ files in the current Dryad version 2 deposit Both source checksums matched during complete-deposit inspection. | current_deposit_file_listing | https://doi.org/10.5061/dryad.5qfttdz5d |
Counts retain their source-reported units. Additional rows can describe components, paired items, or derivative copies and are not automatically added to the primary quantity.
Notes
Scope screen: core_add. Current Dryad v2 file listing: 2 files, 4478935663 bytes.
Access information and download
- CLI
- Python
# Read-only preflight
eyehub download dryad_rpgr_cone_rod_wes --data-dir ./data --dry-run --json
# Download, only when preflight reports supported behavior
eyehub download dryad_rpgr_cone_rod_wes --data-dir ./data
from eyedatahub.acquisition import preflight_dataset
from eyedatahub.datasets.registry import REGISTRY
ds = REGISTRY.get_dataset('dryad_rpgr_cone_rod_wes')
print(preflight_dataset(ds, './data')) # no download
Upstream page: https://doi.org/10.5061/dryad.5qfttdz5d
Source-term evidence: https://doi.org/10.5061/dryad.5qfttdz5d
Loader status
This catalog record provides metadata and access instructions, but it does not yet include a standard DatasetSample loader. Inspect the source file structure or contribute a loader before using it in a training pipeline.
Citation
- BibTeX
- Plain text
@misc{dryad_rpgr_cone_rod_wes,
title = { RPGR Cone-Rod Dystrophy WES Dataset },
note = { Wang, Yafang. WES of the proband with a novel RPGR mutation. Dryad. 2021. doi:10.5061/dryad.5qfttdz5d },
year = { 2021 },
url = { https://doi.org/10.5061/dryad.5qfttdz5d },
}
Wang, Yafang. WES of the proband with a novel RPGR mutation. Dryad. 2021. doi:10.5061/dryad.5qfttdz5d
Source-stated terms
- Raw source string: https://spdx.org/licenses/CC0-1.0.html
- Normalized category:
cc0 - Apparent scope:
dataset_files - Descriptive screening label: Standard label without an explicit NC clause; not a permission finding
⚠️ Source-stated terms, scope, and normalized labels are curation metadata, not legal advice or a permission finding. Review the current official source before transfer or reuse.
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