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Sarek 3.0 - Skierfe

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@FriederikeHanssen FriederikeHanssen released this 21 Jul 11:34
· 3382 commits to master since this release
5bb160d
  • 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

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Full Changelog: 2.7.2...3.0