Sarek 3.0 - Skierfe
FriederikeHanssen
released this
21 Jul 11:34
·
3382 commits
to master
since this release
- Porting to DSL2
- Use CRAM files where possible
- Add new tools: DragMap, DeepVariant, Joint germline calling, Haplotypecaller single sample, CNVKit Somatic, Tiddit Somatic
- Replaced tools: Trimgalore -> Fastp, Qualimap -> Mosdepth
- New references: BWAMem2, DragMap, Germline Resource
- Add a new entry
--step markduplicates
- Steps can be started from bam or cram files
- Added
--paired_variant_calling_only
to skip normal computations for paired samples - Only unmatched tumor samples will be run in single mode
- Input fastq files are split by default and mapped in parallel
- Bam2Fastq: changed to using samtools
- Samplesheet is now in CSV format with a header line with improved validation and flexibility
- New parameter
--skip_tools
retires--skip_qc
,--skip_markduplicates
and--skip_bqsr
--sequencing_center
renamed to --seq_platform`- New parameter
--wes
must be set for targeted data - New parameter
--save_bam_ouput
to store results file in BAM format instead of CRAM - Additional VEP output formats
- Additional VEP plugins: loftee, spliceAI, spliceRegions, dbnsfp
- Remove sentieon support
New Contributors
- @abhi18av made their first contribution in #394
- @nickhsmith made their first contribution in #454
- @emiller88 made their first contribution in #465
- @priesgo made their first contribution in #432
- @SusiJo made their first contribution in #545
- @asp8200 made their first contribution in #571
- @lassefolkersen made their first contribution in #591
- @WackerO made their first contribution in #570
Full Changelog: 2.7.2...3.0