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11.0.0

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@jemten jemten released this 12 May 08:07
· 285 commits to master since this release
9758991

Changes and new features

  • HmtNote for annotation of mitochondrial variants in VCF file
  • Mitochondrial deletion analysis
  • GATK Haplotypecaller has been turned off in favour of Deepvariant
  • Introduces possibility to store singularity images locally as a .sif file
  • Increased allele frequency cut off for when a variant is filtered out to 0.7
  • Turned off Star_caller and Telomerecat by default

Tools

  • cyrius v1.1 -> v1.1.1
  • deeptrio 1.1.0-gpu -> 1.2.0-gpu
  • gatk 4.2.0.0 -> 4.2.2.0
  • glnexus v1.3.1 -> v1.4.1
  • HmtNote: 0.7.2
  • htslib: 1.10.2 -> 1.13
  • multiqc 1.10.1 -> v1.11
  • star-fusion 1.10.0 -> 1.10.1
  • vep release_103.1 -> release_104.3

References

  • gnomad: r3.0 -> r3.1.1
  • [NEW] gnomad mt: r3.1
  • clinvar: 20210415 -> 20211010