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tkmamidi committed Jan 25, 2024
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12 changes: 6 additions & 6 deletions README.md
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Expand Up @@ -30,7 +30,7 @@ in this [GitHub repo](https://github.com/uab-cgds-worthey/DITTO-API).

*Tools:*

- Anaconda3 or pip3
- Anaconda3
- OpenCravat
- Git

Expand Down Expand Up @@ -68,16 +68,16 @@ Please follow the steps mentioned in [install_openCravat.md](docs/install_openCr

Create an environment via conda or pip. Below is an example to install `nextflow`.

- [Python virtual environment](https://docs.python.org/3/tutorial/venv.html)
- [Anaconda virtual environment](https://docs.anaconda.com/free/anaconda/install/index.html)

```sh
# create environment. Needed only the first time. Please use the above link if you're not using Mac.
python -m venv ditto-env
conda create --name envi ditto-env

source ditto-env/bin/activate
conda activate ditto-env

# Install nextflow and OpenCravat
pip install nextflow
# Install nextflow
conda install bioconda::nextflow
```


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12 changes: 6 additions & 6 deletions docs/build_DITTO.md
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# DITTO

:fire: DITTO (inspired by pokemon) is a tool for exploring any type of genetic variant and their predicted functional
:fire: DITTO (inspired by pokemon) is a tool for exploring any type of small genetic variant and their predicted functional
impact on transcript(s).

:fire: DITTO uses an explainable neural network model to predict the functional impact of variants and utilizes SHAP to
Expand All @@ -20,8 +20,8 @@ sources.

*Tools:*

- Anaconda3 or pip3
- OpenCravat
- Anaconda3
- OpenCravat-2.4.1
- Git

*Resources:*
Expand Down Expand Up @@ -63,7 +63,7 @@ conda activate training

### Setup OpenCravat (ignore if already installed)

Please follow the steps mentioned in [install_openCravat.md](docs/install_openCravat.md).
Please follow the steps mentioned in [install_openCravat.md](../docs/install_openCravat.md).

## Data

Expand Down Expand Up @@ -111,13 +111,13 @@ Follow the below steps to install and add more databases for annotation and befo

2. Add the annotator to `mypackage/mypackage.yml` and reannotate the clinvar VCF file.

3. Add the annotator to the [train config](configs/opencravat_train_config.json) and specify how to parse the
3. Add the annotator to the [train config](../configs/opencravat_train_config.json) and specify how to parse the
annotation.

4. Follow the steps from Preprocessing above to parse, filter, process, tune and train DITTO.


## Benchmarking

Please follow the [python notebook](src/analysis/opencravat_latest_benchmarking-Consequence_80_20.ipynb) to benchmark
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.
2 changes: 1 addition & 1 deletion docs/install_openCravat.md
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Expand Up @@ -30,7 +30,7 @@ oc module install-base
oc module install aloft cadd cadd_exome cancer_genome_interpreter ccre_screen chasmplus civic clingen clinpred clinvar cosmic cosmic_gene cscape dann dann_coding dbscsnv dbsnp dgi ensembl_regulatory_build ess_gene exac_gene fathmm fathmm_xf_coding funseq2 genehancer gerp ghis gnomad gnomad3 gnomad_gene gtex gwas_catalog linsight loftool lrt mavedb metalr metasvm mutation_assessor mutationtaster mutpred1 mutpred_indel ncbigene ndex ndex_chd ndex_signor omim pangalodb phastcons phdsnpg phi phylop polyphen2 prec provean repeat revel rvis segway sift siphy spliceai uniprot vest cgc cgd varity_r
```

Please look at the [install logs](docs/install_openCravat.logfile) for the versions of all the above annotators used to
Please look at the [install logs](../docs/install_openCravat.logfile) for the versions of all the above annotators used to
train the current DITTO model.

### Install reporter modules for DITTO
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