Opal 4.13.2 Release Notes

Charlene Son-Rigby -

5 October 2015

This release provides on data source updates, and adds annotation support for transcripts for ribosomal DNA in both mitochondrial and nuclear DNA.

 


Data Source Release Versions

  • 1000 Genomes phase 3 version 5 (downloaded May 2, 2013)
  • ClinVar (downloaded September 2015)
  • COSMIC v71
  • dbNSFP version 2.9
  • dbSNP release 144
  • ENSEMBL version 75
  • ExAC 0.3 release
  • Exome Variant Server 6500 v0.0.30
  • Gene Ontology OBO September 2, 2015 15:00
  • GWAS catalogue (downloaded May 21, 2014)
  • HGMD Public version 7.1
  • Human Phenotype Ontology build #90
  • Human Phenotype Ontology OBO 1632
  • OMIM (downloaded September 19, 2015)
  • PhenCode / LSDB (download April 30, 2014)

 

 

 

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