Skip to content

Commit

Permalink
Update README.md
Browse files Browse the repository at this point in the history
  • Loading branch information
tkmamidi authored Apr 23, 2024
1 parent 324e72a commit 7b0b51a
Showing 1 changed file with 4 additions and 3 deletions.
7 changes: 4 additions & 3 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -115,12 +115,13 @@ 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
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?

<!-- markdown-link-check-disable -->
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

<!-- markdown-link-check-enable -->
## Contact information

For queries, please open a GitHub issue.
Expand Down

0 comments on commit 7b0b51a

Please sign in to comment.