| Challenges | CAGI Year | Data source type | DOI |
|---|---|---|---|
| NAGLU | CAGI 4 | Publication | 10.1371/journal.pone.0200008 |
| PTEN/TPMT | CAGI 5 | Publication | 10.1038/s41588-018-0122-z |
| Annotate All Missense | CAGI 5 | CAGI website*,** | |
| CALM1 | CAGI 5 | Publication | 10.15252/msb.20177908 |
| GAA | CAGI 5 | CAGI website | |
| CBS | CAGI 1 & 2 | CAGI website | |
| SUMO-ligase | CAGI 4 | CAGI website | |
| PCM1 | CAGI 5 | Publication | 10.1038/s41467-020-19637-5 |
| L-PYK | CAGI 4 | CAGI website | |
| p53 rescue | CAGI 2 |
Data file (training set) CAGI website (answer key) |
10.24432/C5T89H |
| Frataxin | CAGI 5 | Publication | 10.1002/humu.23843 |
| p16 | CAGI 3 | Publication | 10.1002/humu.22550 |
| ENIGMA | CAGI 5 | CAGI website | |
| BRCA | CAGI 3 | CAGI website | |
| Vex-Seq | CAGI 5 | CAGI website | |
| eQTL | CAGI 4 | Publication | 10.1002/humu.23197 |
| MaPSy | CAGI 5 | Publication | 10.1186/s13059-019-1653-z |
| Regulation-Satutation | CAGI 5 | CAGI website | |
| Crohn’s | CAGI 4 |
Publication*** CAGI website (answer key) |
10.1097/MIB.0000000000001235 (pediatric IBD cohort). 10.1016/j.ebiom.2016.08.037 (healthy controls) |
| SickKids | CAGI 4 & 5 | Publication*** | 10.1002/humu.23874 |
* The CAGI website URL is https://genomeinterpretation.org
** A subset of variants used in the Annotate All Missense challenge were obtained from the a proprietary version of the HGMD, database. These variants (those in HGMD 2020.4 but not HGMD 2019) are excluded from the answer key on the CAGI website but can be obtained under the HGMD Professional license (https://www.hgmd.cf.ac.uk).
*** The full patient data for the Crohn’s and SickKids challenges are not maintained on the CAGI website because of patient privacy issues. However, approved users may obtain these from the authors of the corresponding publications in the above table.