Releases: fulcrumgenomics/twistcgp
Releases · fulcrumgenomics/twistcgp
1.0.0
Initial release of fulcrumgenomics/twistcgp, a Nextflow pipeline for processing data from Twist Bioscience's TwistCGP product for targeted enrichment of cancer-associated genes. Created with the nf-core template.
Features
- Read QC with FastQC and adapter trimming with fastp
- FASTQ to BAM conversion with fgbio FastqToBam
- Alignment with bwa-mem2 and duplicate marking with picard MarkDuplicates
- Variant calling with GATK4 Mutect2
- Variant annotation with SnpEff, Ensembl VEP (including gnomAD and COSMIC), and CIViCpy
- Copy number variant calling with CNVkit
- Microsatellite instability detection with MSIsensor2
- Tumor mutational burden calculation with pyTMB
- Metrics collection with picard CollectHsMetrics, CollectMultipleMetrics, and perbase
- QC reporting with MultiQC
- Genome index preparation subworkflow
- Built on nf-core template v3.3.2