Fabric Enterprise 6.5 | Pipeline 6.6 - Pre-Release Notes

Charlene Son-Rigby -

Planned Release Date - 6 May 2020 

Fabric Enterprise 6.5 will be released on 6 May 2020.

New Features
  • New text-based custom columns (2 total, 50-char limit).
  • Tiering information automatically imported for Somatic panels.
  • Visualization of Cosmic and Civic data annotations in Fabric Enterprise.
  • Confirmation on deleting filter sets.

Fabric Enterprise Data Source Manifest

Fabric Pipeline 6.6

  • 1000 Genomes Phase 3 version 5 (2013-05-02) plus mitochondrial variants
  • CADD v1.0
  • CIVIC 2018-01-17 (b37 only)
  • ClinGen ISCA 2016-10-16 (b37 only)
  • ClinVar 2019-08-01
  • COSMIC v83 (b38), v82 (b37)
  • dbSNP 150
  • dbVar 2016-09-28 (b37 only)
  • DGV 2016-05-15 (b37 only)
  • Ensembl v95
  • EVS 6500 v.0.0.30 (2014-11-03)
  • ExAC 0.3
  • Exome Variant Server 6500 v0.0.30
  • Gene Ontology OBO October 13, 2017
  • GeneSplicer February 19, 2003
  • Genomenon Mastermind 2019-09-27
  • GnomAD r2.1.1
  • GWAS 2018-01-23 (b38), 2014-05-21 (b37)
  • HGNC and Entrez gene synonyms (downloaded February 13, 2019)
  • Human Phenotype Ontology OBO (downloaded March 4, 2019)1
  • LSDB 2014-04-30
  • MaxEntScan September 25, 2003
  • MutationTaster (dbNSFP v2.9)
  • NNSplice v0.9
  • Omicia Score v2.0
  • OMIM 2019-08-20
  • 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 v96 (b38), v80/81 (b37)
  • SIFT (dbNSFP) v3.5 (b38), v2.9 (b37)
  • UMLS version 2017AA (May 8, 2017)
  • VAAST Variant Prioritizer v1.1
  • VEP v952
  • WEKA 3-6-10

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

2McLaren et. al. 2016 (doi:10.1186/s13059-016-0974-4)

 

Support Notes

1. Genomes annotated with different major pipeline versions (e.g. 6.2.X versus 6.5) cannot be used in the same clinical report, e.g. for family tests. Genomes should be re-annotated with the same pipeline version.

2. Clinical reports can no longer be created using samples annotated with Opal Pipeline version 6.0.14 or older (samples annotated prior to July 8, 2017). 

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