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@marc-sturm marc-sturm released this 01 Dec 08:26
· 343 commits to master since this release
2023_11
7e51d74
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Learn about vigilant mode.

Most important changes:

  • added AlphaMissense (removed Sift and PolyPhen)
  • switched from BAM to CRAM
  • MaxEntScan: added acceptor/donor gain predictions (based on own implementation of MaxEntScan)
  • Improved DRAGEN support (MappingQC now does ReadQC, gVCF, ...)
  • improved long-read pipeline
  • added tumor-normal calling based on DRAGEN (optional)
  • switched to SpliceAI raw scores
Assets 2
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