RD-Connect GPAP synthetic data spiked-in variant data
<p>This data is a subset of Rare Disease Synthetic Dataset (<a href="https://ega-archive.org/datasets/EGAD00001008392">EGAD00001008392</a>) dataset. The subset only contains the chromosomal regions with the spiked-in causative variants. The associated study is the Human genomic and phenotypic synthetic data for the study of rare diseases (<a href="https://ega-archive.org/studies/EGAS00001005702">EGAS00001005702</a>) study. For more info go to <a href="https://ega-archive.org/">https://ega-archive.org/</a>.</p> <p>All this data was created with the support of the RD-Connect GPAP (<a href="https://platform.rd-connect.eu/">https://platform.rd-connect.eu/</a>), EC H2020 project EJP-RD (grant # 825575), EC H2020 project B1MG (grant # 951724) and Generalitat de Catalunya VEIS project (grant # 001-P-001647).</p>
ShareScore
40/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 4
- Harmonization
- 4
- Access
- 20
- Reuse readiness
- 8
- Engagement
- 4
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