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tkmamidi committed Apr 23, 2024
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Expand Up @@ -116,11 +116,12 @@ Detailed instructions on reproducing the model is explained in [build_DITTO.md](
## Download DITTO DB (Precomputed scores)

Precomputed scores for all possible SNVs and known Indels from gnomADv3.0 in main chromosomes in hg38 reference genome
are available to download here - https://s3.lts.rc.uab.edu/cgds-public/dittodb/dittodb.html
are available to download here - <https://s3.lts.rc.uab.edu/cgds-public/dittodb/dittodb.html>

## How to cite?
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Mamidi, T.K.K.; Wilk, B.M.; Gajapathy, M.; Worthey, E.A. DITTO: An Explainable Machine-Learning Model for Transcript-Specific Variant Pathogenicity Prediction. Preprints 2024, 2024040837. https://doi.org/10.20944/preprints202404.0837.v1
Mamidi, T.K.K.; Wilk, B.M.; Gajapathy, M.; Worthey, E.A. DITTO: An Explainable Machine-Learning Model for
Transcript-Specific Variant Pathogenicity Prediction. Preprints 2024, 2024040837. <https://doi.org/10.20944/preprints202404.0837.v1>
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## Contact information

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