Genome Sequence Informatics's repositories
bclconvert
Workflow to process a run directory through Dragen bclconvert
cBioPortal_Importer
Scripts to facilitate loading data into cBioPortal
bcl2fastq
Workflow for Illumina's bcl2fastq
ichorCNA
workflow for estimating the fraction of tumour in cell-free DNA from sWGS
bamMergePreprocessing
WDL workflow to filter, merge, mark duplicates, indel realign and base quality score recalibrate groups of related (e.g. by library, donor, project) lane level alignments
bwamem2
workflow for bwa-men2
djerba-demo
Demonstration of the Djerba reporting system
smmipsWorkflow
Workflow for analysis of smMIP libraries
mutect2Consensus
The Mutect2Consensus workflow will process umiConsensus outputs for the tumour data through mutect2 in tumour only mode to call variants then use information from the matched normal to identify likely germline variants.
crosscheckFingerprintsCollector
workflow to generate per library fingerprints for use in gatk CrosscheckFingerprints
mrdetect
workflow to detect Minimal Residual disease with MRDetect
variantEffectPredictor
Variant Effect Predictor Workflow
cfMedipsQc
cfMedipsQC workflow produces a set of metrics files for sequencing data generated in methylation profiling of circulating Free DNA.
dellyGermline
Call germline SVs using Delly
tmbAnalysis
A workflow to align fastq reads, call variants, annotate and assess TMB
dragmap
A workflow to run Dragmap
msisensor
msisensor-pro workflow
probeCoverageDistribution
Workflow to calculate probe coverage, calls bwaMem