Powerful new machine learning algorithms for variant indexing deliver improved specificity for the Mastermind Genomic Search Engine.
Mastermind’s Genomic Search Engine uncovers 594% More Articles per Variant and 63% More Variants per Gene in a head-to-head test against COSMIC variant database. The Mastermind Genomic Search Engine has a number of meaningful advantages over the Catalogue of Somatic Mutations in Cancer (COSMIC) as a tool for searching genomic evidence, reducing the amount of time required to curate variants and resulting in fewer missed articles containing evidence for the variant.
We’re pleased to announce the most significant advancement to the Mastermind Genomic Search Engine since its launch: the ability to filter millions of genomic articles according to ACMG variant interpretation guidelines.
Thank you for being a part of the Mastermind Community. In addition to adding up to 20,000 new articles a week to our Genomic Search Engine, we are committed to continuously improving the Mastermind search algorithms and product capabilities.
In the test described below, the Mastermind Genomic Search Engine was found to have several meaningful advantages over Google Scholar as a tool for searching genomic evidence, reducing the amount of time required to curate a variant and resulting in fewer missed articles containing evidence for the variant. Users who searched Mastermind as part of this experiment felt more confident that they had found all of the relevant literature to form the most accurate diagnoses and treatment plans.
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.