Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma
Four exome difference files for three congenital-glaucoma families are directly translational human ocular genetics data.
At a glance
| Field | Value |
|---|---|
| Short name | dryad_congenital_glaucoma_wes |
| Full name | Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma |
| First published | 2016-12-16 |
| Publication date precision | day |
| Publication date evidence | datadryad.org/api |
| Publication date source field | publicationDate |
| Publication date reviewed | 2026-09-11 |
| Primary category | omics |
| Resource role | current_dataset |
| Dataset family | dryad_congenital_glaucoma_wes |
| Contained modalities | omics, tabular |
| Tasks | classification |
| Primary reported quantity | 3 families |
| Classes | Not reported (Not reported) |
| Splits | all |
| Size | 0.442139301 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 | 3 | families | Source-stated primary resource quantity. Current official Dryad metadata. | official_source_description | https://doi.org/10.5061/dryad.k7455 |
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: core_add. Named file-level object: Four WES difference files. Official Dryad API metadata and current file listing reviewed 2026-08-01.
Access information and download
- CLI
- Python
# Read-only preflight
eyehub download dryad_congenital_glaucoma_wes --data-dir ./data --dry-run --json
# Download, only when preflight reports supported behavior
eyehub download dryad_congenital_glaucoma_wes --data-dir ./data
from eyedatahub.acquisition import preflight_dataset
from eyedatahub.datasets.registry import REGISTRY
ds = REGISTRY.get_dataset('dryad_congenital_glaucoma_wes')
print(preflight_dataset(ds, './data')) # no download
Upstream page: https://doi.org/10.5061/dryad.k7455
Source-term evidence: https://doi.org/10.5061/dryad.k7455
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_congenital_glaucoma_wes,
title = { Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma },
note = { Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma. Dryad Dataset. doi:10.5061/dryad.k7455 },
url = { https://doi.org/10.5061/dryad.k7455 },
}
Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma. Dryad Dataset. doi:10.5061/dryad.k7455.
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.
Similar resources by shared modality
- dryad_uveitis_vitreous_biomarkers: Uveitis Vitreous Biomarker Dataset (234 eyes,
cc0) - dryad_dry_eye_nlrp3: Dry Eye NLRP3 Ocular Surface Dataset (150 participants,
cc0) - dryad_amd_zinc_complement: AMD Zinc Complement Dataset (72 participants,
cc0) - dryad_acanthamoeba_keratitis_transcriptome: Human conjunctival transcriptome in Acanthamoeba keratitis: An exploratory study (Not reported,
cc0) - dryad_corneal_conjunctivitis_biomarker: Corneal Conjunctivitis Biomarker Dataset (Not reported,
cc0) - dryad_glaucoma_lhon_mitochondrial: Glaucoma and LHON Mitochondrial Function Dataset (Not reported,
cc0) - dryad_ocular_surface_amr: Ocular Surface AMR Keratitis Dataset (Not reported,
cc0) - dryad_rao_multiomics: Data and code from: Fatty acid metabolism reprograms immune microenvironment in retinal artery occlusion: Multi-Omics analysis highlights immunometabolic crosstalk (Not reported,
cc0)