Myeloid

Description

The input data for the pipeline consists of fastq files. However, for the pipeline to consume the data, it needs to be provided in the form of a CSV file that includes metadata...

Input CSV

sample_id type assay platform read1 read2
example template documentation mkdocs example.1.fastq.gz example.2.fastq.gz

Column Descriptions

  • sample_id: Text representing the name or id of the sample being analyzed
  • type: Type of the sample, e.g., tumor or normal
  • assay: Assay of the sample, e.g., tumorWGS, myeloid, solidtumor, etc.
  • platform: Name of the platform used for sequencing, e.g., illumina
  • read1: Full path to the read 1 fastq file
  • read2: Full path to the read 2 fastq file

Output Files

  • BAM: A BAM file is a compressed binary file format used to store and index high-throughput sequencing data, such as DNA sequence reads aligned to a reference genome
  • VCF: A VCF file is a text file format used to store and annotate genetic variation data, such as single nucleotide polymorphisms (SNPs) and small insertions/deletions (indels), identified from sequencing data.

Software Versions

Process Tool Version External_Contact_Person
AGGREGATE_VCFS perl v5.26.2 -
ANNOTATE_VEP perl v5.26.1 -
BQSR_UMI sentieon v202112 -
BWA_UMI bwa v0.7.17-r1188 https://github.com/lh3/bwa/issues
sentieon v202112 -
CNVKIT_BATCH cnvkit v0.9.9 https://github.com/etal/cnvkit/issues
python v3.7.1 -
CNVKIT_CALL cnvkit v0.9.9 https://github.com/etal/cnvkit/issues
python v3.7.1 -
CNVKIT_GENS cnvkit v0.9.9 https://github.com/etal/cnvkit/issues
python v3.7.1 -
CNVKIT_PLOT cnvkit v0.9.9 https://github.com/etal/cnvkit/issues
python v3.7.1 -
CONCATENATE_VCFS vcftools v0.1.16 https://github.com/vcftools/vcftools/issues
vt-decompose v0.5 Adiran (atks@umich.edu)
vt-normalize v0.5 Adiran (atks@umich.edu)
CONTAMINATION perl v5.28.1 -
CUSTOM_DUMPSOFTWAREVERSIONS python v3.11.0 -
yaml v6.0 -
FILTER_FOR_CNV bedtools v2.30.0 https://github.com/arq5x/bedtools2/issues
bgzip v1.12 https://github.com/samtools/htslib/issues
perl v5.26.2 -
tabix v1.12 https://github.com/samtools/htslib/issues
FREEBAYES freebayes v1.3.5 https://github.com/freebayes/freebayes/issues
perl v5.26.2 -
vcffilter v1.0.2 https://github.com/biopet/vcffilter/issues
LOWCOV sambamba v0.8.0 https://github.com/biod/sambamba/issues
MARKDUP sentieon v202112 -
MARK_GERMLINES perl v5.26.2 -
MERGE_GENS bedtools v2.30.0 https://github.com/arq5x/bedtools2/issues
bgzip v1.12 https://github.com/samtools/htslib/issues
tabix v1.12 https://github.com/samtools/htslib/issues
PON_FILTER perl v5.26.2 -
SENTIEON_QC sentieon v202112 -
TNSCOPE sentieon v202010.01 -
VARDICT perl v5.26.2 -
vardict v1.8.2 https://github.com/AstraZeneca-NGS/VarDict/issues
Workflow Nextflow v23.04.2 https://github.com/nextflow-io/nextflow/issues
SomaticPanelPipeline v1.0dev https://github.com/Clinical-Genomics-Lund/SomaticPanelPipeline/issues