GO Pathology Workbench by GenomOncology is an end-to-end solution that integrates directly with lab sequencers, annotates detected variants, matches patients to clinical trials, provides data on recommended and adverse therapies, and produces a comprehensive summary report.
The UCSC Genome Browser provides free, public access to genome assemblies, allowing researchers and clinicians the opportunity to search the genomic data of humans and many other species. Academics and researchers have been utilizing this interactive suite of tools, evidence, and downloadable data files for nearly 20 years.
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 …
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.
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.