Workflow: CNV_pipeline

Fetched 2024-12-04 10:03:56 GMT
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Inputs

ID Type Title Doc
bed File

capture kit

fastq1 File[]

FASTQ 1 list of files

fastq2 File[]

FASTQ 2 list of files

samples File

TXT file mapping cases ID, samples ID and batch

bits_set Integer

skip output alignments with this bits set

blacklist File (Optional)

BED file containing regions to ignore

chromosome String

chromosome for targeted sequencing for CODEX

read_group String (Optional)

FASTA read group (used to fix BAM files)

manta_exome Boolean

provide appropriate settings for WES

manta_min_q String

minimum CNV quality for MANTA

enable_codex Boolean

execute CODEX predictions

enable_manta Boolean

execute MANTA predictions

gridss_min_q String

minimum CNV quality for GRIDSS

reference_sa File (Optional)

sa index reference genome

bwt_algorithm String (Optional)

BWT construction algorithm: bwtsw or is (Default: auto)

codex_max_len String

maximum CNV lenght for CODEX

codex_min_len String

minimum CNV lenght for CODEX

enable_gridss Boolean

execute GRIDSS predictions

manta_max_len String

maximum CNV lenght for MANTA

manta_min_len String

minimum CNV lenght for MANTA

reference_amb File (Optional)

amb index for reference genome

reference_ann File (Optional)

ann index for reference genome

reference_bwt File (Optional)

bwt index for reference genome

reference_fai File (Optional)

fai index for reference genome

reference_pac File (Optional)

pac index reference genome

threads_fastp Integer (Optional)

number of threads for fastp

gridss_max_len String

maximum CNV lenght for GRIDSS

gridss_min_len String

minimum CNV lenght for GRIDSS

threads_fastqc Integer (Optional)

number of threads for fastqc

threads_gridss Integer (Optional)

number of threads for GRIDSS

reference_fasta File

reference genome

threads_bwa_mem Integer (Optional)

number of threads for bwa-mem

codex_min_lratio String

minimum CNV lratio for CODEX

threads_samtools Integer (Optional)

number of threads for samtools

enable_exomeDepth Boolean

execute EXOME_DEPTH predictions

exomeDepth_min_bf String

minimum CNV Bayes factor for EXOME_DEPTH

exomeDepth_max_len String

maximum CNV lenght for EXOME_DEPTH

exomeDepth_min_len String

minimum CNV lenght for EXOME_DEPTH

min_mapping_quality Integer

skip alignments with MAPQ smaller than this minimum

generate_bwa_indexes Boolean (Optional)

enable generation of reference genome indexes

Steps

ID Runs Label Doc
bwa_mem bwa_mem
bwa_index bwa_index

Modified from https://github.com/kids-first/kf-somatic-workflow/blob/master/sub_workflows/prepare_reference.cwl

cnv_codex cnv_codex

CNV CODEX calling

cnv_manta cnv_manta

CNV Manta calling

cnv_gridss cnv_gridss

CNV GRIDSS calling

bam_filtering bam_filtering

BAM filtering

samtools_sort samtools_sort
trimmed_fastq trimmed_fastq

Quality Control (raw data), Raw Data trimming and Quality Control (pre-processed)

cnv_exomedepth cnv_exomedepth

CNV ExomeDepth calling

final_filtering final_filtering

Final filtering

picard_markduplicates picard_markduplicates

Mark duplicates

samtools_view_sam2bam samtools_view_sam2bam

Outputs

ID Type Label Doc
output_all File
html_report File[]
json_report File[]
output_codex File (Optional)
output_manta File (Optional)
output_gridss File (Optional)
fastqc_raw_zip File[]
fastqc_raw_html File[]
fastqc_paired_zip File[]
output_exomedepth File (Optional)
fastqc_paired_html File[]
output_bam_filtering File[]
Permalink: https://w3id.org/cwl/view/git/32a040f94e9798bf91858da51598f0d68c35797d/structuralvariants/cwl/workflow.cwl