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pave v1.1

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@charlesshale charlesshale released this 18 Feb 21:44
· 6113 commits to master since this release

Functional:

  • set protein impact to p.? when top effect is SPLICE in coding transcripts

Bugs:

  • IMPACT and PAV_TI VCF field count was incorrectly set

Technical:

  • handle multiple local phase sets from Sage (in v3.0)
  • handle alt missing, * and N, and only use first of multiple allele alts - added to support a Strelka-generated VCF