Welcome to the New Interpretation Browser¶
Have feedback?
We value your input. Please let us know if you have any feedback on the New IB, or want to request new features.
The New Interpretation Browser (New IB) is a new product that is now available to Genomic Laboratory Hubs (GLHs) for interpretation of Rare Disease (RD) cases, as part of the Genomic Medicine Service (GMS).
The New IB aims to close the key gaps and pain points of existing interpretation systems, and more efficiently and comprehensively address all the ”must-have” user needs of RD interpretation such that Clinical Scientists can perform clinical interpretation seamlessly.
Analyse, complete interpretation and report SNV-only cases, with the relevant interpretation data being saved in CVA and a Summary of Findings created (as usual), without the need to complete the exit questionnaire in the Interpretation Portal. SNV-only cases are defined as those without any Tiered CNVs and/or Tiered STRs (for reference, this represents ~18% of past GMS cases).
The New IB is a whole-genome application, supporting all variants that are part of the Interpreted Genome (as output by the GEL Rare Disease pipeline) and all variants encoded in the patient VCF(s), to cater for both the present and the evolving needs of clinical interpretation and the GMS service.
Need help?
If you need support, or have identified a bug or incident, please use the links below to contact the Service Desk for help.
Getting started¶
Accessing New IB User guide FAQs Training
- Connect to and open rare disease cases in the New IB via the Interpretation Portal (case page)
- Review prioritised variants identified by the Genomics England Rare Disease pipeline (Tiering and Exomiser)
- Record your interpretation evidence, assign classification (or exclusions) to relevant variants and decide which variants to report on
- Collate all interpreted and reportable variants, and close your case, in a reporting page
- Access your Summary of Findings in the Interpretation Portal and view your findings in CVA
Additional Resources¶
Related Help Pages
Rare Disease Genome Analysis Guide
Interpretation Portal Help Page
Abbreviations
| Abbreviation | Definition |
|---|---|
| ACGS | Association for Clinical Genomic Science |
| ACMG | American College of Medical Genetics and Genomics |
| CDS | Coding DNA Sequence |
| CNV | Copy Number Variant |
| CVA | Clinical Variant Ark |
| New IB | New Interpretation Browser |
| GEL | Genomics England |
| GMS | Genomic Medicine Service |
| GLH | Genomic Laboratory Hub |
| HGVS | Human Genome Variation Society |
| HTML | Hyper Text Markup Language |
| HSCN | Health and Social Care Network (N3) |
| IGV | Integrative Genomics Viewer |
| IP | Interpretation Portal |
| NGIS | National Genomics Informatics System |
| PID | Patient Identifiable Data |
| QC | Quality Control |
| SO | Sequence Ontology |
| SNV | Single Nucleotide Variant |
| SV | Structural Variant |
| TOMS | Test Order Management Service |
| UAT | User Acceptance Testing |
| VCF | Variant Call Format File |
| WGS | Whole Genome Sequencing |