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1.5.4
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@MichaelStromberg MichaelStromberg released this 11 Feb 01:04
· 956 commits to main since this release
v1.5.4
5f7d0cc

Description

  • Upgraded to .NET Core 1.1
  • Intergenic and transgenic gene fusion support
  • Added OMIM gene-to-phenotype annotations
  • Added sample counts for COSMIC variants
  • Silenced regulatory region annotation for variants > 50 kbp
  • Added command-line option to output all transcripts for large SVs
  • This release contains 11 unresolved bugs

Data sources

  • Ensembl build 84 (originally from VEP)
  • RefSeq build 84 (originally from VEP)
  • ClinVar (2016-08-31)
  • COSMIC (v78)
  • dbSNP (v147)
  • 1000 Genomes Project (Phase 3 v5a)
  • EVS (ESP6500SI-V2-SSA137)
  • ExAC (0.3.1)
  • phyloP (2009-11-10)
  • DGV (2016-05-15)
  • ClinGen (2016-04-14)
Assets 3
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