- GO HGVS parser can decipher all variant types, including insertions, deletions, substitutions, intronic, splice and promoter data.
- Fusion data, copy number changes, protein expression information acquired via IHC (ER, PR, MSI, PD-L1, etc.) can also trigger rules.
- The KMS also contains a full cytogenetics engine that parses out the individual aberrations from ISCN strings and uses those concepts, e.g.” i(17)(q10)” implies “del(17)(p10)” in triggering rules content.
- Lookup table for NGS variants allows users to see proximal pathogenic variant entries in COSMIC, aiding in determining potential pathogenicity of VUSs.
- Relevant therapies for the patient’s tumor type(s) and/or for other tumor type(s) are generated based on patient information.
- Therapy and prognosis recommendations are populated from FDA, NCCN, ASCO and MCG guidelines contained within the GO KMS.
- All markers entered into the application are annotated with all available information about the gene from My Cancer Genome in the marker details section.
- Several database annotations are available, including population frequencies (1000 genomes, ExAC, EVS), COSMIC lookup, and prediction scores (SIFT, Mutation Taster).
- Provide recommendations for variant calling (i.e. Detected, Not Detected, Failed Testing)
- Configurable filters that remove intronic or synonymous variants from Workbench
- Ability for users to curate variant pathogenicity. This information can be preserved in the user’s local datastore for use on future reports.
- Ability for users to curate variant content in addition to MCG information. This information is preserved in the user’s local datastore for use on future reports.
- Report generation is based on fully customizable templates.
- Reports can be generated in a user -defined format (e.g., PDF), as well as, mutually-agreed upon structured data (e.g., JSON).
- GO has successfully worked with UNMC to implement variant conveyance to the EMR (EPIC) via HL7 2.4 messages.
- Pathology Workbench reports are template-based and fully configurable by the GO team.