1 July 2015
We are excited to announce that Opal 4.11 is now live. In this release we have expanded our clinical workflow to support quality control metrics, and enable report creation prior to sample upload. We have also introduced additional filtering features, including incorporating EVS and ExAC frequencies in Filtering Protocols.
Opal Clinical provides an end-to-end solution for clinical NGS, combining Omicia’s industry-leading Opal annotation platform with structured interpretation workflows, full support for clinical report generation, curated gene panels and LIS integration -- all within a secure, HIPAA-compliant environment. Contact email@example.com if you’d like to try Opal Clinical.
Opal Clinical - Quality Control Metrics
Opal Clinical now provides support for the capture and management of quality control metrics. A lab-defined set of quality metrics can be established using the new Assay Type feature. Sample quality control data can be marked as pass or fail, and data is tracked for audit purposes.
Opal Clinical - Create New Report Prior to Sample Upload
The Opal Clinical workflow have been expanded so reports can be created prior to sample upload. This enables a lab to set up reports including loading patient information and managing quality control processes prior to loading variant files.
Filtering Protocols have been expanded to include the EVS and ExAC allele frequencies.
Within Opal Clinical, users can filter using Filtering Protocols and Panels in Solo and Family reports.
Data Source Release Versions
- 1000 Genomes phase 3 version 5 (downloaded May 2, 2013)
- ClinVar (downloaded June 2015)
- COSMIC v71
- dbNSFP version 2.5
- dbSNP release 142 v2
- ENSEMBL version 75
- ExAC 0.3 release
- Exome Variant Server 6500 v0.0.30
- GWAS catalogue (downloaded May 21, 2014)
- HGMD Public version 7.1
- HPO build #86 (June 1, 2015)
- OMIM (downloaded June 8, 2015)
- PhenCode / LSDB (downloaded May 2013)