@@ -624,11 +624,15 @@ rule gatk_filter_mutect2:
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rule hmftools_sage :
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- """Data-processing step to call somatic variants in TO and TN
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- samples using hmftools sage. HMF Tools is a suite of tools the
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- Hartwig Medical Foundation developed to analyze genomic data. Amber
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- and cobalt must be run prior to running purple. For more information
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- about hmftools visit: https://github.com/hartwigmedical/hmftools
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+ """Data-processing step to call somatic variants in TO and TN samples
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+ using hmftools sage. HMF Tools is a suite of tools the Hartwig Medical
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+ Foundation developed to analyze genomic data. Sage can be run with WES
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+ data using the same set of options for WGS. At the current moment, sage
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+ does not have an option to restrict variant calling to specific regions.
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+ It does have an -high_depth_mode option; however, the authors state it
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+ should only be used for small targeted panels. For more information
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+ about hmftools visit github:
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+ https://github.com/hartwigmedical/hmftools
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@Input:
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Sorted BAM file (scatter-per-tumor-sample)
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@Output:
@@ -699,6 +703,7 @@ rule clairs_tumor_only:
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"""
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input :
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tumor = join (workpath , "BAM" , "{name}.recal.bam" ),
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+ bed = provided (join (workpath , "references" , "wes_regions_50bp_padded.bed" ), run_wes ),
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output :
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snps = join (workpath , "clairs" , "somatic" , "{name}" , "snv.vcf.gz" ),
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indels = join (workpath , "clairs" , "somatic" , "{name}" , "indel.vcf.gz" ),
@@ -709,6 +714,9 @@ rule clairs_tumor_only:
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tumor = '{name}' ,
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genome = config ['references' ]['GENOME' ],
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outdir = join (workpath , "clairs" , "somatic" , "{name}" ),
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+ wes_region_option = lambda _ : "--bed_fn {0}" .format (
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+ join (workpath , "references" , "wes_regions_50bp_padded.bed" ),
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+ ) if run_wes else '' ,
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threads :
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# ClairS-TO over utilizes threads,
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# testing has shown it over utilizes
@@ -724,7 +732,7 @@ rule clairs_tumor_only:
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--tumor_bam_fn {input.tumor} \\
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--ref_fn {params.genome} \\
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--threads {threads} \\
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- --platform ilmn \\
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+ --platform ilmn {params.wes_region_option} \\
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--output_dir {params.outdir} \\
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--conda_prefix /opt/micromamba/envs/clairs-to
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