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@MichaelStromberg MichaelStromberg released this 07 Mar 01:37
· 488 commits to main since this release
v2.0.4
511995f

Description

  • PHANTOM support (phased variant recomposer)
  • VEP91 genes and transcripts update
  • Completed initial plugin support
    • Expansion Hunter plugin
    • LOFTEE plugin
  • Added support for TOPMed
  • Added support for gapped RefSeq transcripts
  • Updated data sources:
    • COSMIC
    • ClinVar
    • MITOMAP
    • OMIM
  • Now supporting the new CANVAS alternate allele representation

Data sources

  • Ensembl build 91 (originally from VEP)
  • RefSeq build 91 (originally from VEP)
  • ClinVar (2018-01-29)
  • COSMIC (v84)
  • dbSNP (v150)
  • 1000 Genomes Project (Phase 3 v5a)
  • ExAC pLI, pNull, pRec (0.3.1)
  • gnomAD (2.0.2)
  • MITOMAP (2018-02-28)
  • phyloP (2009-11-10)
  • DGV (2016-05-15)
  • ClinGen (2016-04-14)
  • OMIM (2018-02-13)
Assets 3
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