Try Molecular Health's MH Guide CAS tertiary analysis software.
The strategic IDT-Molecular Health partnership enables researchers to combine the flexible, comprehensive variant identification from Archer NGS assays and Archer Analysis with the rapid, actionable research insights that can be obtained from Molecular Health’s tertiary analysis software, MH Guide CAS, to build a complete molecular tumor profiling workflow.
Molecular Health’s variant annotation and reporting software is designed to equip molecular researchers with tertiary analysis for their NGS data, maximizing lab efficiency and streamlining genomics data workflows to accelerate cancer discoveries.
Variants and biomarker information—review, classify and edit a specimen’s variant and biomarker’s pre-classifications
Curated Variant Information (CVI) —review and select published associations regarding diagnostic, prognostic, or predictive information about identified variants
Review and select published research for treatment response and identify recruiting clinical trials matching to specimen criteria
Review and finalize your specimen’s summary report
MH Guide CAS requires data in Variant Call Format (VCF) from analysis pipelines. MH Guide CAS is NGS panel- and secondary analysis pipeline-agnostic. Molecular Health provides an adaptation tool to generate compatible VCF input from popular secondary analysis products such as Archer™ Analysis, Illumina® Dragen, and Thermo Fisher Ion Reporter. Automatically generated reports can be extended and refined to include results from non-NGS methods (e.g., FISH, IHC, (q)PCR). The software generates well-designed, customizable report templates in PDF and JSON formats.
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.
The Molecular Health knowledge base is updated on a monthly basis to ensure that labs have access to up-to-date information.
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