Top Cited Genomic Variants in 2017 – Highlighting EGFR p.C797S

Original version of this post was previously published on the Enlightenbio Blog on January 1, 2018 by Brigitte Ganter. 

Dr. Mark Kiel (CSO and co-Founder at Genomenon) and Lauren Chunn (Data Processing Analyst at Genomenon) were able to mine the Mastermind database of genomic variants and analyze the trending citations of widely covered variants in the medical literature – including one of the most notable variants: EGFR p.C797S.

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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 filter the articles to identify the most high-yield content for a given Disease-Gene or Disease-Gene-Variant association.

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Variant Search Gene Nomenclature in Mastermind

The myriad ways authors can describe genetic variants poses a challenge for devising effective ways to search for genomic publications likely to be useful for making diagnostic decisions. In this blog post, we clarify how Mastermind continues to address this issue of diversity of variant nomenclature to maximize the sensitivity of the variant search space and to provide our users with the best opportunity to identify high-yield content to inform their curation efforts.

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Mastermind API Supports Automated Variant Curation Workflows

Mastermind supports the ability to generate queries via API calls to take users to selected content in Mastermind based on disease, gene, variant and PubMed identification number (PMID). This post details how to make an API call for disease, gene, variant and/or specific article.

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Automating Genetic Literature Searches in Excel

Mastermind supports the ability to generate queries based on URL variables, which can be easily manipulated in spreadsheet software such as Microsoft Excel. This post detail how to programmatically generate URLS in a spreadsheet software.

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