# Public Data Sets

ICA Cohorts comes front-loaded with a variety of publicly accessible data sets, covering multiple disease areas and also including healthy individuals.

| Data set             | Samples                                           | Diseases/Phenotypes                                                                                     | Reference                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               |
| -------------------- | ------------------------------------------------- | ------------------------------------------------------------------------------------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- |
| 1kGP-DRAGEN          | 3202 WGS: 2504 original samples plus 698 relateds | Presumed healthy                                                                                        | [DRAGEN reanalysis of the 1000 Genomes Dataset](https://aws.amazon.com/blogs/industries/dragen-reanalysis-of-the-1000-genomes-dataset-now-available-on-the-registry-of-open-data/)                                                                                                                                                                                                                                                                                                                                                                                      |
| DDD                  | 4293 (3664 affected), *de novos* only             | Developmental disorders                                                                                 | [McRae et al., Nature 19:1194-1196](https://www.nature.com/articles/nature21062)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        |
| EPI4K                | 356, *de novos* only                              | Epilepsy                                                                                                | [Epi4K Consortium, Nature 501:217-221](https://www.nature.com/articles/nature12439)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                     |
| ASD Cohorts          | 6786 (4266 affected), *de novos* only             | Autism Spectrum disorder                                                                                | <p><a href="https://doi.org/10.1016/j.neuron.2012.04.009">Iossifov et al. Neuron 74:285-299</a>;<br><a href="https://doi.org/10.1038/nature13908">Iossifov et al. Nature 498:216-221</a>;<br><a href="https://doi.org/10.1038/nature10989">O'Roak et al. Nature 485:246-250</a>;<br><a href="https://doi.org/10.1038/nature10945">Sanders et al. Nature 485:237-241</a>;<br><a href="https://doi.org/10.1016/j.neuron.2015.09.016">Sanders et al. Neuron 87:1215-1233</a>;<br><a href="https://doi.org/10.1038/nature13772">De Rubeis et al. Nature 515:209-215</a></p> |
| De Ligt *et al.*     | 100, *de novos* only                              | Intellectual disability                                                                                 | [De Ligt et al., N Engl J Med 367:1921-1929](https://www.nejm.org/doi/full/10.1056/NEJMoa1206524)                                                                                                                                                                                                                                                                                                                                                                                                                                                                       |
| Homsy *et al.*       | 1213, *de novos* only                             | Congenital heart disease (HP:0030680)                                                                   | [Homsy et al., Science 350:1262-1266](https://www.science.org/doi/10.1126/science.aac9396)                                                                                                                                                                                                                                                                                                                                                                                                                                                                              |
| Lelieveld *et al.*   | 820, *de novos* only                              | Intellectual disability                                                                                 | [Lelieveld et al., Nature Neuroscience19:1194-1196](https://www.nature.com/articles/nn.4352)                                                                                                                                                                                                                                                                                                                                                                                                                                                                            |
| Rauch *et al.*       | 51, *de novos* only                               | Intellectual disability                                                                                 | [Rauch et al., Lancet 380:1674-1682](https://www.sciencedirect.com/science/article/pii/S0140673612614809)                                                                                                                                                                                                                                                                                                                                                                                                                                                               |
| Rare Genomes Project | 315 WES (112 pedigrees)                           | Various                                                                                                 | <https://raregenomes.org/>                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              |
| TCGA                 | ca. 4200 WES, ca. 4000 RNAseq                     | 12 tumor types                                                                                          | <https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga>                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   |
| GEO                  | RNAseq                                            | Auto-immune disorders, incl. asthma, arthritis, SLE, MS, Crohn's disease, Psoriasis, Sjögren's Syndrome | For GEO/GSE study identifiers, please refer to the in-product list of studies                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           |
|                      | RNAseq                                            | Kidney diseases                                                                                         | For GEO/GSE study identifiers, please refer to the in-product list of studies                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           |
|                      | RNAseq                                            | Central nervous system diseases                                                                         | For GEO/GSE study identifiers, please refer to the in-product list of studies                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           |
|                      | RNAseq                                            | Parkinson's disease                                                                                     | For GEO/GSE study identifiers, please refer to the in-product list of studies                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           |