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Update CADD link and warn about licensing requirements (#42)
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dvg-p4 authored Aug 9, 2024
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9 changes: 6 additions & 3 deletions examples/cadd/README.md
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This directory contains scripts to convert [CADD](https://cadd.gs.washington.edu/download) to an `echtvar` archive.

**Note that a license is required for commercial use of CADD scores.**

Users can create their own archive like this:
```
wget -c https://kircherlab.bihealth.org/download/CADD/v1.6/GRCh38/whole_genome_SNVs.tsv.gz
python cadd2vcf.py whole_genome_SNVs.tsv.gz | bcftools view -O b -o cadd.v1.6.bcf
echtvar encode cadd.v1.6.hg38.zip cadd.json cadd.v1.6.bcf
# See https://cadd.gs.washington.edu/download for links to older versions, hg19, and US mirrors
wget -c https://kircherlab.bihealth.org/download/CADD/v1.7/GRCh38/whole_genome_SNVs.tsv.gz
python cadd2vcf.py whole_genome_SNVs.tsv.gz | bcftools view -O b -o cadd.v1.7.bcf
echtvar encode cadd.v1.7.hg38.zip cadd.json cadd.v1.7.bcf
```

with these `cadd2vcf.py` from this directory and contents for `cadd.json`:
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