As per the original FFPEsig with changes:
- Docker support
- GRCh37 and 38 support (requires fasta input)
- VCF input (creates input in correct format)
- VCF output (with FFPE mutations removed)
- Wrapper shell script to run 'freestanding' or using Nextflow/Snakemake.
sh FFPEsig_run.sh \
--VCF /path/to/input.vcf \
--fasta /path/to/input.vcf \
--sample_name string_sample_id \
--repair_status <Unrepaired|Repaired>
python3 /FFPEsig/src/vcf2input.py \
--vcf /path/to/input.vcf \
--fasta /path/to/fasta.fa \
--sample_name string_sample_id \
--output_dir ./
python3 /FFPEsig/src/FFPEsig.py \
--input string_sample_id.FFPEsig_input.csv \
--sample string_sample_id \
--label <Unrepaired|Repaired> \
--output_dir ./
Label option, [--label], must be either of them <Unrepaired|Repaired>. This specifies whether the FFPE sample had UDG treatment prior to library construction which will affect the signature of FFPE-induced mutations and how they should be corrected.
The preprint of the tool is avaiable in bioRxiv. Check it out.