Description

msisensor2 detection of MSI regions.

Input

name:type
description
pattern

meta:map

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

]

tumor_bam:file

BAM/CRAM/SAM file

*.{bam,cram,sam}

tumor_bam_index:file

BAM/CRAM/SAM index file

*.{bai,crai}

normal_bam:file

BAM/CRAM/SAM file

*.{bam,cram,sam}

normal_bam_index:file

BAM/CRAM/SAM index file

*.{bai,crai}

intervals:file

BED

*.bed

scan:file

Input scan file from MSIsensor2 scan module

models:file

Folder of MSISensor2 models (available from Github or as a product of msisensor2/scan)

*/*

Output

name:type
description
pattern

msi

meta:map

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

]

${prefix}:file

MSI classifications as a text file

distribution

meta:map

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

]

${prefix}_dis:file

Read count distributions of MSI regions

somatic

meta:map

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

]

${prefix}_somatic:file

Somatic MSI regions detected.

versions

versions.yml:file

File containing software versions

versions.yml

Tools

msisensor2

MSIsensor2 is a novel algorithm based machine learning, featuring a large upgrade in the microsatellite instability (MSI) detection for tumor only sequencing data, including Cell-Free DNA (cfDNA), Formalin-Fixed Paraffin-Embedded(FFPE) and other sample types. The original MSIsensor is specially designed for tumor/normal paired sequencing data.