Skip to content

2023_11
Compare
Choose a tag to compare
@marc-sturm marc-sturm released this 01 Dec 08:26
· 529 commits to master since this release
2023_11
7e51d74
This commit was created on GitHub.com and signed with GitHub’s verified signature. The key has expired.
GPG key ID: 4AEE18F83AFDEB23
Expired
Verified
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
Loading