pave v1.1
charlesshale
released this
18 Feb 21:44
·
7531 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