diff --git a/pipeline/scripts/run_gripss_somatic b/pipeline/scripts/run_gripss_somatic index 59b441df24..dcbadf48c0 100755 --- a/pipeline/scripts/run_gripss_somatic +++ b/pipeline/scripts/run_gripss_somatic @@ -12,6 +12,7 @@ known_hotspot_file=$1 && shift pon_sv_file=$1 && shift pon_sgl_file=$1 && shift repeat_mask_file=$1 && shift +target_regions_bed=$1 && shift if [[ ! -d "${output_dir}" ]]; then mkdir ${output_dir} @@ -45,7 +46,7 @@ args="${args} -ref_genome ${ref_genome} \ -output_dir ${output_dir}" if [ "${run_mode}" == "PANEL" ]; then - args="${args} -filter_sgls + args="${args} -target_regions_bed ${target_regions_bed} \ -hard_min_tumor_qual 200 -min_qual_break_point 1000 -min_qual_break_end 1000" fi diff --git a/pipeline/scripts/run_pave_somatic b/pipeline/scripts/run_pave_somatic index 38318b556a..211a43afed 100755 --- a/pipeline/scripts/run_pave_somatic +++ b/pipeline/scripts/run_pave_somatic @@ -11,6 +11,7 @@ ref_genome=$1 && shift ensembl_dir=$1 && shift driver_gene_panel=$1 && shift pon_file=$1 && shift +pon_artefact_file=$1 && shift mappability_bed=$1 && shift gnomad_path=$1 && shift @@ -46,6 +47,9 @@ args="-sample ${sample_id} \ -read_pass_only \ -output_vcf_file ${pave_vcf}" +if [ "${run_mode}" == "PANEL" ]; then + args="${args} -pon_artefact_file ${pon_artefact_file}" +fi if [ "${ref_genome_version}" == "V37" ]; then args="${args} -gnomad_freq_file ${gnomad_path}" diff --git a/pipeline/scripts/run_pipeline b/pipeline/scripts/run_pipeline index 471b57cf42..30d9cf2c2d 100755 --- a/pipeline/scripts/run_pipeline +++ b/pipeline/scripts/run_pipeline @@ -105,6 +105,7 @@ if [ "${ref_genome_version}" == "V37" ]; then germline_blacklist_bed=${resources_dir}/variants/KnownBlacklist.germline.37.bed germline_blacklist_vcf=${resources_dir}/variants/KnownBlacklist.germline.37.vcf.gz gnomad_path=${resources_dir}/variants/gnomad_variants_v37.csv.gz + pon_artefact_file=${resources_dir}/variants/PanelArtefacts.37.tsv.gz # SVs (for Gripss, Linx) sv_hotspot_file=${resources_dir}/sv/known_fusions.37.bedpe @@ -151,6 +152,7 @@ else germline_blacklist_bed=${resources_dir}/variants/KnownBlacklist.germline.38.bed germline_blacklist_vcf=${resources_dir}/variants/KnownBlacklist.germline.38.vcf.gz gnomad_path=${resources_dir}/variants/gnomad/ + pon_artefact_file=${resources_dir}/variants/PanelArtefacts.38.tsv.gz # SVs (for Gripss, Linx) sv_hotspot_file=${resources_dir}/sv/known_fusions.38.bedpe @@ -244,7 +246,7 @@ ${scripts_dir}/run_pave_somatic ${pave_jar} \ ${tumor_id} \ ${sage_vcf} ${pave_somatic_dir} ${pave_vcf} \ ${run_mode} ${ref_genome_version} ${ref_genome} \ - ${ensembl_dir} ${driver_gene_panel} ${somatic_pon_file} ${mappability_bed} ${gnomad_path} \ + ${ensembl_dir} ${driver_gene_panel} ${somatic_pon_file} ${pon_artefact_file} ${mappability_bed} ${gnomad_path} \ # Sage germline @@ -297,7 +299,7 @@ ${scripts_dir}/run_gripss_somatic ${gripss_jar} \ ${tumor_id} ${reference_id} \ ${gripss_somatic_dir} ${gridss_vcf} \ ${run_mode} ${ref_genome_version} ${ref_genome} \ - ${sv_hotspot_file} ${sv_pon_file} ${sgl_pon_file} ${repeat_mask_file} \ + ${sv_hotspot_file} ${sv_pon_file} ${sgl_pon_file} ${repeat_mask_file} ${target_regions_definition} \ if [ "${reference_id}" != "none" ]; then diff --git a/pipeline/scripts/run_sage_somatic b/pipeline/scripts/run_sage_somatic index 54dd863a46..5da4230851 100755 --- a/pipeline/scripts/run_sage_somatic +++ b/pipeline/scripts/run_sage_somatic @@ -44,7 +44,7 @@ args="${args} -hotspots ${hotspots} \ -write_bqr_data \ -out ${sage_vcf}" -if [ ! "${run_mode}" == "PANEL" ]; then +if [ "${run_mode}" == "PANEL" ]; then args="${args} -hotspot_min_tumor_vaf 0.01 -hotspot_min_tumor_qual 150 -panel_min_tumor_qual 250 -high_confidence_min_tumor_qual 350 -low_confidence_min_tumor_qual 500" fi