15 February 2017
The Opal 4.27 release provides data source updates.
Data Source & Algorithm Versions
Data Source & Algorithm Versions
Opal Pipeline 6.0.10 - Released February 15, 2017
- 1000 Genomes phase 3 version 5 (downloaded May 2, 2013)
- CADD v1.0
- ClinGen Dosage Sensitivity Project, ISCA Evidence (downloaded October 16, 2016)
- ClinVar (downloaded February 2, 2017 - monthly release)
- COSMIC v79
- DGV Database of Genomic Variants (download May 15, 2016)
- dbVar September 28, 2016 Release
- dbNSFP version 2.9
- dbSNP release 149
- ENSEMBL version 83
- ExAC 0.3 release
- Exome Variant Server 6500 v0.0.30
- Gene Ontology OBO February 7, 2017
- GeneSplicer February 19, 2003
- GERP++ 2010 release
- Genome Reference Consortium Human Genome Build v37
- GWAS catalogue (downloaded May 21, 2014)
- HGNC and Entrez gene synonyms (downloaded February 6, 2017)
- Human Phenotype Ontology1 build #115
- Human Phenotype Ontology OBO 1703 (January 23, 2017)
- MaxEntScan September 25, 2003
- MutationTaster (dbNSFP v2.9)
- NNSplice v0.9
- Omicia Score v2.0
- OMIM (downloaded February 2, 2017)
- PhastCons - phastCons46way (October 8, 2012)
- PhenCode / LSDB (download April 30, 2014)
- PhyloP - phyloP46way (December 1, 2009)
- PolyPhen-2 v2.2.2 (dbNSFP v2.9)
- RefSeq release 79 (November 7, 2016)
- SIFT (dbNSFP v2.9)
- SiPhy v0.5
- UMLS version 2015AB (November 12, 2015)
- VAAST Variant Prioritizer v1.1
1Sebastian Köhler, Sandra C Doelken, Christopher J. Mungall, Sebastian Bauer, Helen V. Firth, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucl. Acids Res. (1 January 2014) 42 (D1): D966-D974 doi:10.1093/nar/gkt1026
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