| # Notices and attribution |
|
|
| ## SpliceAI |
|
|
| The scores were produced using SpliceAI 1.3.1 and its five-model ensemble. |
| SpliceAI was developed by Illumina, Inc. This dataset is independent and is not |
| affiliated with or endorsed by Illumina. The SpliceAI name is used only to |
| identify compatibility with the upstream method and score format. |
|
|
| Please cite: |
|
|
| Jaganathan K, et al. Predicting Splicing from Primary Sequence with Deep |
| Learning. *Cell*. 2019;176(3):535–548.e24. |
| <https://doi.org/10.1016/j.cell.2018.12.015> |
|
|
| ## MANE |
|
|
| Transcript definitions are derived from MANE Select v1.5. The source MANE |
| annotation itself is not redistributed in this dataset. |
|
|
| Please cite: |
|
|
| Morales J, et al. A joint NCBI and EMBL-EBI transcript set for clinical |
| genomics and research. *Nature*. 2022;604:310–315. |
| <https://doi.org/10.1038/s41586-022-04558-8> |
|
|
| ## Reference genome |
|
|
| Scores use GRCh38/hg38 coordinates. Reference genome sequence is not included. |
|
|
| ## Generation software |
|
|
| The generation software is available separately under GPL-3.0-or-later: |
|
|
| <https://github.com/yimingluo-md/batched-inference-for-spliceai> |
|
|
| The dataset license does not alter the software license, and the software |
| license does not replace the dataset license. |
|
|
| ## External validation |
|
|
| The Broad SpliceAI Lookup service was used as an external scientific |
| comparator. Raw API responses are not included. Broad Institute does not |
| endorse this dataset. |
|
|
| ## Research-use notice |
|
|
| This dataset is not a validated clinical diagnostic device. Predictions require |
| independent review and must not be the sole basis for patient-care decisions. |
|
|
