---
global:
- ROOT: data/raw
- indir: data/raw
- outdir: data/processed
- file_rule: (.vcf)$|(.vcf.gz)$
rules:
- bgzip:
process: |
{
if(! -f "$self->{indir}/$sample.vcf.gz"){
$OUT .= "bgzip $self->{indir}/$sample.vcf && tabix $self->{indir}/$sample.vcf.gz\n";
}
}
- normalize_snpeff:
local:
- indir: "{$self->ROOT}"
process: |
bcftools view {$self->indir}/{$sample}.vcf.gz | sed 's/ID=AD,Number=./ID=AD,Number=R/' \
| vt decompose -s - \
| vt normalize -r $REFGENOME - \
| java -Xmx4G -jar $SNPEFF/snpEff.jar -c \$SNPEFF/snpEff.config -formatEff -classic GRCh37.75 \
| bgzip -c > \
{$self->{outdir}}/{$sample}.norm.snpeff.gz && tabix {$self->{outdir}}/{$sample}.norm.snpeff.gz
- gemini_sqlite:
process: |
gemini load -v {$self->indir}/{$sample}.norm.snpeff.gz \
--skip-cadd -t snpEff \
{$self->outdir}/{$sample}.vcf.db