Which content and databases are available with MH Guide CAS?

Based on data derived from our exclusive and up-to-date MH Guide CAS knowledge base, information for interpreting relevant variants is compiled in the context of each case and presented to you in standardized Curated Variant Information (CVI) narratives.

The comprehensive presentation of all information in the CVIs dramatically reduces and streamlines the time required to interpret identified variants. The CVIs include details on the identified variants and their unique descriptions, specifying the type of biomarker association (e.g., predictive, diagnostic, prognostic), source citations, an evaluation of the biomarkers based on internationally accepted, actionability tiering systems, and the approval status of the associated treatment options. An undisputed strength of MH Guide CAS is its ability to provide region-specific content matching based on the case’s location (e.g., drug approvals), according to FDA, or EMA, as well as location-based clinical trial identification , including distance calculations. MH Guide CAS users will also benefit from automated pre-classification of variant pathogenicity and variant oncogenicity according to current recommendations.

All content coming from external databases (e.g., public and commercial) is transparently labeled and traceable. Typical external databases used for annotation in MH Guide CAS are various gene and protein models (e.g., Ensemble, RefSeq, UniProt), variant frequency databases (e.g., gnomAD, cancerhotspots.org, COSMIC, FLOSSIES, ToMMo), DNA variation databases (e.g., ClinVar, dbSNP, BRCA Exchange), selected computational prediction scores such as MaxEntScan, dbNSFP (e.g., REVEL, MetaLR, MetaSVM, and many more), and dbscSNV, as well as selected scores for computational prediction of phylogenetic conservation (e.g., GERP, PhastCons, PhyloP), and a variety of drug approval and drug information sources, medical ontologies, and practice guidelines.