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The above images show an example of how one could search by gene and the subsequent level of detail provided by HSMD.
When you search by gene in HSMD, you access the total number of genes listed in the database. You can then further narrow your search by viewing data from the QIAGEN Knowledge Base or focusing exclusively on clinically observed variants.
Once you narrow your focus to searching for only clinically observed variants, you receive a table and distribution graph that shows the number of observed clincial cases for a particular gene across all cancer types.
HSMD also provides an interactive table that offers detailed information on gene type, association with disease, actionability, and relevant drugs and clinical trials.
Column: #Types: Genes are listed as oncogene, tumor suppressor, or not established.
Column: #Diseases: HSMD displays the number of how many diseases have been observed or associated with a particular gene.
Column: #Actionability: HSMD displays the AMP/ASCO/CAP tier calculation for actionability for each gene. This calculation is the highest tier across all cancers.
Column: #Drugs: These are drugs that have been approved (FDA, EMA, PMDA), are being investigated, or currently in clinical trials.
Column: #Clinical Trials: This is the number of active or recruiting clinical trials associated with a particular gene.
When you hover over the #Impact column, you receive a dropdown menu of alteration type (Nonsense, Frameshift, Inframe Indel, Splice Site, Missense,Synonymous, or Unknown).
When you hover over the #Function column, you receive a dropdown menu of alteration function (Known Activating, Predicted Activating, Altered, Known Inactivating, Known No Effect, Predicted No Effect, Acquired Resistance, microRNA Binding Site, Unknown, or Not Determined).