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feat: add cytobands to cnv report #477

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Jun 14, 2024
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2 changes: 2 additions & 0 deletions .tests/integration/DATA/centromeres.bed
Original file line number Diff line number Diff line change
@@ -0,0 +1,2 @@
chrA 2500 2600 centromere
chrB 3450 3550 centromere
1 change: 1 addition & 0 deletions .tests/integration/config/config.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -150,6 +150,7 @@ merge_cnv_json:
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_amp_genes.vcf.gz
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_loh_genes_all.vcf.gz
germline_vcf: snv_indels/bcbio_variation_recall_ensemble/{sample}_{type}.ensembled.vep_annotated.filter.germline.exclude.blacklist.vcf.gz
cytobands: "DATA/centromeres.bed"

purecn:
normaldb: "reference/purecn_dummy_normaldb.rds"
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1 change: 1 addition & 0 deletions config/config.data.hg19.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -125,6 +125,7 @@ merge_cnv_json:
annotations:
- "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cnv_amp_genes_240307.bed"
- "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cnv_loh_genes.bed"
cytobands: "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cytoBand.hg19.txt"

mosdepth:
extra: "--no-per-base --fast-mode"
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1 change: 1 addition & 0 deletions config/config.data.hg38.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -125,6 +125,7 @@ merge_cnv_json:
annotations:
- "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cnv_amp_genes_hg38.bed"
- "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cnv_loh_genes_hg38.bed"
cytobands: "{{PROJECT_DESIGN_DATA}}/GMS560/cnv/cytoBand.hg38.txt"

mosdepth:
extra: "--no-per-base --fast-mode"
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4 changes: 2 additions & 2 deletions config/config.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -73,7 +73,7 @@ cnvkit_scatter:

cnv_html_report:
show_table: true
show_cytobands: true
cytobands: true
extra_tables:
- name: Small CNVs and 1p19q
description: >
Expand Down Expand Up @@ -206,10 +206,10 @@ merge_cnv_json:
filtered_cnv_vcfs:
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_amp_genes.filter.cnv_hard_filter_amp.vcf.gz
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_loh_genes_all.filter.cnv_hard_filter_loh.vcf.gz
germline_vcf: snv_indels/bcbio_variation_recall_ensemble/{sample}_{type}.ensembled.vep_annotated.filter.germline.exclude.blacklist.vcf.gz
unfiltered_cnv_vcfs:
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_amp_genes.vcf.gz
- cnv_sv/svdb_query/{sample}_{type}.{tc_method}.svdb_query.annotate_cnv.cnv_loh_genes_all.vcf.gz
germline_vcf: snv_indels/bcbio_variation_recall_ensemble/{sample}_{type}.ensembled.vep_annotated.filter.germline.exclude.blacklist.vcf.gz

mosdepth:
container: "docker://hydragenetics/mosdepth:0.3.2"
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7 changes: 7 additions & 0 deletions config/references/design_files.hg19.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -152,6 +152,13 @@
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.1.1/design/pool1_pool2.sort.merged.padded20.cnv200.hg19.split_fusion_genes.210608.bed.gz.tbi

merge_cnv_json:
cytobands:
checksum: 64de0499795484f1b70410a4cdd3d06f
path: GMS560/cnv/cytoBand.hg19.txt
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.9.0/cnv/cytoBand.hg19.txt

purecn:
intervals:
checksum: 0857e05962696cd3c2e5a4ea94d0fb2c
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7 changes: 7 additions & 0 deletions config/references/design_files.hg38.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -145,6 +145,13 @@
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed.gz.tbi

merge_cnv_json:
cytobands:
checksum: 1b87bbfe572064c2a40d79683ea7a6ad
path: GMS560/cnv/cytoBand.hg38.txt
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.9.0/cnv/cytoBand.hg38.txt

purecn:
intervals:
checksum: 868c8991360482315f820ae822108965
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4 changes: 2 additions & 2 deletions workflow/Snakefile
Original file line number Diff line number Diff line change
Expand Up @@ -639,11 +639,11 @@ use rule cnv_html_report from reports as reports_cnv_html_report with:
tc_file=get_tc_file,
extra_table_files=[t["path"] for t in config.get("cnv_html_report", {}).get("extra_tables", [])],
params:
extra_tables=config.get("cnv_html_report", {}).get("extra_tables", []),
include_table=config.get("cnv_html_report", {}).get("show_table", True),
include_cytobands=config.get("cnv_html_report", {}).get("show_cytobands", True),
include_cytobands=config.get("cnv_html_report", {}).get("cytobands", True),
tc=get_tc,
tc_method=lambda wildcards: wildcards.tc_method,
extra_tables=config.get("cnv_html_report", {}).get("extra_tables", []),


module misc:
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