Stargardt Disease WES Variant Dataset
The 33-proband Stargardt variant table is a direct inherited-retinal-disease genomics resource.
At a glance
| Field | Value |
|---|---|
| Short name | dryad_stargardt_wes |
| Full name | Stargardt Disease WES Variant Dataset |
| First published | 2016-06-29 |
| Publication date precision | day |
| Publication date evidence | https://doi.org/10.5061/dryad.0qk7f |
| Publication date source field | Published |
| Publication date reviewed | 2026-09-11 |
| Primary category | omics |
| Resource role | current_dataset |
| Dataset family | dryad_stargardt_wes |
| Contained modalities | omics |
| Tasks | classification |
| Primary reported quantity | 33 participants |
| Classes | Not reported (Not reported) |
| Splits | all |
| Size | 0.000304159 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 | 33 | participants | Source-described Stargardt disease probands Source-stated quantity; Dryad file count is separate metadata and is not a scientific sample count. | official_source_description | https://doi.org/10.5061/dryad.0qk7f |
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 v1 file listing: 1 files, 284937 bytes.
Access information and download
- CLI
- Python
# Read-only preflight
eyehub download dryad_stargardt_wes --data-dir ./data --dry-run --json
# Download, only when preflight reports supported behavior
eyehub download dryad_stargardt_wes --data-dir ./data
from eyedatahub.acquisition import preflight_dataset
from eyedatahub.datasets.registry import REGISTRY
ds = REGISTRY.get_dataset('dryad_stargardt_wes')
print(preflight_dataset(ds, './data')) # no download
Upstream page: https://doi.org/10.5061/dryad.0qk7f
Source-term evidence: https://doi.org/10.5061/dryad.0qk7f
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_stargardt_wes,
title = { Stargardt Disease WES Variant Dataset },
note = { Xin, Wei, Xiao, Xueshan, Li, Shiqiang, Jia, Xaioyun, Guo, Xiangming, Zhang, Qingjiong, and Jia, Xiaoyun. Data from: Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis. Dryad. 2016. doi:10.5061/dryad.0qk7f },
year = { 2016 },
url = { https://doi.org/10.5061/dryad.0qk7f },
}
Xin, Wei, Xiao, Xueshan, Li, Shiqiang, Jia, Xaioyun, Guo, Xiangming, Zhang, Qingjiong, and Jia, Xiaoyun. Data from: Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis. Dryad. 2016. doi:10.5061/dryad.0qk7f
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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