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removes link check disabler
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tkmamidi committed Feb 2, 2024
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5 changes: 1 addition & 4 deletions README.md
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Expand Up @@ -20,9 +20,8 @@ DITTO scores for variants can be obtained by the below 3 ways. Webapp and API ar
local setup is for batch/bulk variant predictions.

### Webapp
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DITTO is available for public use at this [website](https://cgds-ditto.streamlit.app/).
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### API

Expand Down Expand Up @@ -69,9 +68,7 @@ Please follow the steps mentioned in [install_openCravat.md](docs/install_openCr

> ***NOTE:*** Current version of OpenCravat that we're using doesn't support "Spanning or overlapping deletions"
> variants i.e. variants with `*` in `ALT Allele` column. More on these variants
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> [here](https://gatk.broadinstitute.org/hc/en-us/articles/360035531912-Spanning-or-overlapping-deletions-allele-).
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> These will be ignored when running the pipeline.
#### Run DITTO pipeline
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7 changes: 2 additions & 5 deletions docs/build_DITTO.md
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Expand Up @@ -84,14 +84,12 @@ the below command

```sh
python src/annotation_parsing/parse_single_sample.py -i clinvar.vcf.gz.variant.csv -e parse \
-o clinvar.vcf.gz.variant.csv_parsed.csv.gz -c configs/opencravat_train_config.json
-o clinvar.vcf.gz.variant.csv_parsed.csv.gz -c configs/opencravat_train_config.json
```

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Filter and process the annotations as shown in this [python
notebook](../src/annotation_parsing/opencravat_clinvar_filtering_80-20-20.ipynb). This will output training and testing
data to train the neural network.
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## Tune and Train DITTO

Expand Down Expand Up @@ -120,7 +118,6 @@ Follow the below steps to install and add more databases for annotation and befo
4. Follow the steps from Preprocessing above to parse, filter, process, tune and train DITTO.

## Benchmarking
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Please follow the [python notebook](../src/analysis/opencravat_latest_benchmarking-Consequence_80_20.ipynb) to benchmark
DITTO with other pathogenicity predition tools. It also has code snippets to generate testing metrics and SHAP plots.
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