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2.0.3
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@MichaelStromberg MichaelStromberg released this 08 Dec 20:57
· 550 commits to main since this release
v2.0.3
fb63ae1

Description

  • Added gnomAD & MITOMAP
  • Introduced ExAC pLI, pREC, and pNull scores
  • Updated data sources (ClinVar)

Data sources

  • Ensembl build 84 (originally from VEP)
  • RefSeq build 84 (originally from VEP)
  • ClinVar (2017-11-02)
  • COSMIC (v82)
  • dbSNP (v150)
  • 1000 Genomes Project (Phase 3 v5a)
  • ExAC pLI, pNull, pRec(0.3.1)
  • gnomAD (2.0.2)
  • MITOMAP (2017-11-01)
  • phyloP (2009-11-10)
  • DGV (2016-05-15)
  • ClinGen (2016-04-14)
  • OMIM (2017-09-05)
Assets 3
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