From 324e72a4050b7bf47f5b9ed476a4150d38fd49d4 Mon Sep 17 00:00:00 2001 From: Tarun Mamidi Date: Fri, 12 Apr 2024 09:30:37 -0500 Subject: [PATCH] precomputed scores --- README.md | 4 ++++ 1 file changed, 4 insertions(+) diff --git a/README.md b/README.md index 5d63fe5..0ac7396 100644 --- a/README.md +++ b/README.md @@ -113,6 +113,10 @@ sbatch model.job Detailed instructions on reproducing the model is explained in [build_DITTO.md](docs/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 + ## How to cite? 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