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.