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2023_04
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@marc-sturm marc-sturm released this 17 Apr 11:31
· 846 commits to master since this release
2023_04
b94b8f1

Changes of 2023_04 release:

  • updated tools and databases
  • fixed false duplications in GRCh38 (see details).
  • germline DNA pipeline: Improved sensitivity of non-diploid variant calling (mitochondrial, mosaic).
  • germline DNA pipeline: Added calling of mitochondrial variants for shallow WGS analysis.
  • germline DNA pipeline: Added small variant and structural variant calling on Dragen when '-use_dragen' is enabled (see details).
  • using VcfAnnotateConsequence as primary source for consequence annotations of small variants now instead of VEP.
  • gnomAD exome data from VEP is no longer used. Only gnomAD genome data is used now for variant with AC>=1000.
  • minor fixes and updates.
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