The challenge of translating genomic knowledge from the medical literature into clinical insight in order to drive diagnostic decisions is the focus of Genomenon’s poster presentation at AGBT (Advances in Genome Biology and Technology) 2017 General Meeting this week in Hollywood, Florida.
Mark Kiel MD, Ph.D. will be presenting “Mastermind: An Automated Genomic Knowledge Harvesting and Genomic Data Prioritization Tool to Facilitate Analysis of Large-Scale Genomic Data” in poster session #611 in Great Hall 3 at AGBT 2017.
The challenge of interrogating the 26 million articles in PubMed is complicated by the inability to search the full text of the articles, the complexity of the data itself, and the infrequent use of standardized nomenclature to describe both genetic variants and their association with clinical scenarios.
The authors of the poster—including Dr. Kiel—go on to describe the solution for indexing millions of publications and creating user-defined searches to pinpoint every article that mentions any disease-gene-variant associate. This casts a much wider coverage of variants with deeper literature coverage than manually curated databases like COSMIC (Catalogue of Somatic Mutations in Cancer).