Description

TNscope algorithm performs somatic variant calling on the tumor-normal matched pair or the tumor only data, using a Haplotyper algorithm.

Input

name:type
description
pattern

meta:map

Groovy Map containing sample information. e.g. [ id:‘test’ ]

input:file

One or more BAM or CRAM files.

*.{bam,cram}

input_index:file

Indices for the input files

*.{bai,crai}

intervals:file

bed or interval_list file containing interval in the reference that will be used in the analysis. Only recommended for large WGS data, else the overhead may not be worth the additional parallelisation.

*.{bed,interval_list}

meta2:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

fasta:file

Genome fasta file

*.{fa,fasta}

meta3:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

fai:file

Index of the genome fasta file

*.fai

meta4:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

dbsnp:file

Single Nucleotide Polymorphism database (dbSNP) file

*.vcf.gz

meta5:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

dbsnp_tbi:file

Index of the Single Nucleotide Polymorphism database (dbSNP) file

*.vcf.gz.tbi

meta6:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

pon:file

Single Nucleotide Polymorphism database (dbSNP) file

*.vcf.gz

meta7:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

pon_tbi:file

Index of the Single Nucleotide Polymorphism database (dbSNP) file

*.vcf.gz.tbi

meta8:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

cosmic:file

Catalogue of Somatic Mutations in Cancer (COSMIC) VCF file.

*.vcf.gz

meta9:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

cosmic_tbi:file

Index of the Catalogue of Somatic Mutations in Cancer (COSMIC) VCF file.

*.vcf.gz.tbi

Output

name:type
description
pattern

vcf

meta:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

*.vcf.gz:file

VCF file

*.{vcf.gz}

index

meta:map

Groovy Map containing reference information. e.g. [ id:‘test’ ]

*.vcf.gz.tbi:file

Index of the VCF file

*.vcf.gz.tbi

versions

versions.yml:file

File containing software versions

versions.yml

Tools

sentieon

Sentieon® provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.