Did you know: Discovering High Yield Disease-Gene-Variant Associations

Did you know: Discovering High Yield Disease-Gene-Variant Associations

A novel and highly useful feature of the Mastermind software is the Recurrent Terms category. This feature comprises a set of key terms that are created in real-time for a set of filtered articles on Mastermind’s Association Pages. These key terms are identified because they appear recurrently throughout the selected articles at a frequency much higher than in unrelated articles. These key terms can themselves be used to further filter the articles to identify the most high-yield content for a given Disease-Gene or Disease-Gene-Variant association. As with every key term from each category, the number of articles containing these key terms are listed in parentheses after each entry.

An example of the Association Page showing how to display and select from among the recurrent terms is shown below for the Melanoma-BRAF association. In this example, the anti-BRAF inhibitor vemurafenib appeared automatically in the Recurrent Terms category as it was found in 880 articles and is a term that is highly specific to treatment of BRAF-mutated melanoma.

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The above example also highlights the numerous additional therapies that have been mentioned in the context of BRAF-mutated melanoma including pembrolizumab, dabrafenib, ipilimumab, cobimetinib, trametinib, nivolumab and dacarbazin. These terms can be highlighted serially to explore the relevant literature or otherwise selected altogether to display only those articles mentioning these agents in the Association Page.

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When any or all of these key terms are enabled, note that the variant diagram will automatically be filtered to display only those variants that have been co-mentioned in articles discussing that term, in the example below the anti-BRAF therapy vemurafenib which highlights the p.V600E and neighboring variants. Additionally, the Article Plot will automatically be updated to reflect the newly calculated Association Strength scores now that these new key terms were added as search parameters.

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Other useful examples of this capability include discovering:

 

 

 

 

 

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