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Smeds committed Feb 16, 2024
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Showing 1 changed file with 24 additions and 24 deletions.
48 changes: 24 additions & 24 deletions config/references/design_files.hg38.yaml
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path: GMS560/cnv/cnv_amp_genes_hg38.bed
checksum: 51ca611484f5b406edfe79f06e8879ef
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnv_amp_genes_hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnv_amp_genes_hg38.bed

cnv_loh_genes_all:
path: GMS560/cnv/cnv_loh_genes_hg38.bed
checksum: 219ec534eb7bf5e617a8d4d11a18ca24
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnv_loh_genes_hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnv_loh_genes_hg38.bed

cnv_loh_genes_validated:
path: GMS560/cnv/cnv_loh_uppsala_genes_hg38.bed
checksum: 88026108ccf28766e12385a356fffd21
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnv_loh_uppsala_genes_hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnv_loh_uppsala_genes_hg38.bed

bcftools_filter_include_region:
exon:
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.MUC6_31_rm.exon_only.reannotated.230222.bed
checksum: 720e34fbe7d559980a283cc2839c559a
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.MUC6_31_rm.exon_only.reannotated.230222.bed
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.MUC6_31_rm.exon_only.reannotated.230222.bed

bcftools_filter_exclude_region:
blacklist:
checksum: 3911faef7fd360a7960841d2ba4b6054
path: GMS560/cnv/cnvkit_germline_blacklist_20221221_hg38.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnvkit_germline_blacklist_20221221_hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnvkit_germline_blacklist_20221221_hg38.bed

bcftools_id_snps:
snps_bed:
checksum: 907d2ba6fcac9b33b5a4fcdef0eedb66
path: GMS560/design/ID_SNPs_hg38.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/ID_SNPs_hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/ID_SNPs_hg38.bed

call_small_cnv_amplifications:
regions_file:
checksum: 4f7b0d50c0acc18201512e59322c144c
path: GMS560/cnv/cnv_amplification_genes_hg38.tsv
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnv_amplification_genes_hg38.tsv
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnv_amplification_genes_hg38.tsv

call_small_cnv_deletions:
regions_file:
checksum: 92510485ce32e9ef64697121aae4122c
path: GMS560/cnv/cnv_deletion_genes_hg38.tsv
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/cnv_deletion_genes_hg38.tsv
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/cnv_deletion_genes_hg38.tsv

exon_skipping:
design_bed:
checksum: 75299f3690fd91d8e42e7db3743896b2
path: GMS560/design/Twist_RNA_Design5.annotated.hg38.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/Twist_RNA_Design5.annotated.hg38.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/Twist_RNA_Design5.annotated.hg38.bed

filter_fuseq_wes:
gene_white_list:
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checksum: 32f3be3365e485092c33e9f0997968c1
path: GMS560/cnv/gnomad_SNP_0.001_target.annotated.hg38.interval_list
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/gnomad_SNP_0.001_target.annotated.hg38.interval_list
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/gnomad_SNP_0.001_target.annotated.hg38.interval_list

hotspot_annotation:
hotspots:
checksum: 08c574ec13984188c8e4d2c80c14d2e3
path: GMS560/reports/Hotspots_combined_regions_nodups.231011_hg38.csv
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/Hotspots_combined_regions_nodups.231011_hg38.csv
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/Hotspots_combined_regions_nodups.231011_hg38.csv

hotspot_info:
hotspot_mutations:
checksum: 08c574ec13984188c8e4d2c80c14d2e3
path: GMS560/reports/Hotspots_combined_regions_nodups.231011_hg38.csv
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/Hotspots_combined_regions_nodups.231011_hg38.csv
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/Hotspots_combined_regions_nodups.231011_hg38.csv

hotspot_report:
hotspot_mutations:
checksum: 08c574ec13984188c8e4d2c80c14d2e3
path: GMS560/reports/Hotspots_combined_regions_nodups.231011_hg38.csv
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/Hotspots_combined_regions_nodups.231011_hg38.csv
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/Hotspots_combined_regions_nodups.231011_hg38.csv

manta_config_t:
extra:
checksum: 15dc3d83cba8ffbb8e5226ae38b26da8
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed.gz
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed.gz
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
extra_tbi:
checksum: 2c76712f672c4bf7f05eba12314ff61d
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed.gz.tbi
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed.gz.tbi
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

purecn:
intervals:
checksum: af529c0ece5fe201de4d507000564ff7
path: GMS560/purecn/targets_twist-gms-st_hg38_25000_intervals.txt
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/targets_twist-gms-st_hg38_25000_intervals.txt
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/targets_twist-gms-st_hg38_25000_intervals.txt

purecn_coverage:
intervals:
checksum: af529c0ece5fe201de4d507000564ff7
path: GMS560/purecn/targets_twist-gms-st_hg38_25000_intervals.txt
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/cnv/targets_twist-gms-st_hg38_25000_intervals.txt
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/cnv/targets_twist-gms-st_hg38_25000_intervals.txt

report_fusions:
annotation_bed:
checksum: af529c0ece5fe201de4d507000564ff7
path: GMS560/design/Twist_RNA_fusionpartners_hg38.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/rna_fusion/Twist_RNA_fusionpartners.bed
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/rna_fusion/Twist_RNA_fusionpartners.bed

fp_fusions:
checksum: eca1c1cf1f1e068cbdada20bdb75c392
path: GMS560/rna_fusion/filter_rna_fusions_20231024.txt
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/rna_fusion/filter_rna_fusions_20231024.txt
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/rna_fusion/filter_rna_fusions_20231024.txt

references:
design_bed:
checksum: ad95a96bfb3416ce6d2aadf6e3df207c
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed
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

design_intervals:
checksum: 86a073346c27a5c7c5034f82b79ed65c
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.MUC6_31_rm.exon_only.reannotated.230222.interval_list
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.MUC6_31_rm.exon_only.reannotated.230222.interval_list
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.MUC6_31_rm.exon_only.reannotated.230222.interval_list

design_intervals_gatk_cnv:
checksum: 58088e1c88e02f7b0cfd5211eabc01cd
path: GMS560/design/gatk.design.hg38.preprocessed.interval_list
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/gatk.design.hg38.preprocessed.interval_list
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/gatk.design.hg38.preprocessed.interval_list

design_bed_rna:
checksum: ad95a96bfb3416ce6d2aadf6e3df207c
path: GMS560/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/pool1_pool2.sort.merged.padded20.cnv200.hg38.split_fusion_genes.reannotated.230222.bed
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

design_intervals_rna:
checksum: 2d05715acc2a54f11e8c2ead3126d76e
path: GMS560/design/Twist_RNA_Design5.annotated.hg38.interval_list
type: file
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/main/design/Twist_RNA_Design5.annotated.hg38.interval_list
url: https://github.com/genomic-medicine-sweden/Twist_Solid_pipeline_files/raw/v0.5.0/design/Twist_RNA_Design5.annotated.hg38.interval_list

tmb:
filter_genes:
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