A guest post from Peter Schols, CEO of Diploid:
This week, our team at Diploid announced exciting news: We have integrated the Mastermind Genomic Search Engine into Moon to accelerate the diagnostic process for rare disease.
With millions of human genetic variants cited in over 30 million articles, comprehensively searching the medical research for a variant can be like finding a needle in a haystack. This is especially important when a single paper can mean the difference between a variant of uncertain significance (VUS) and a pathogenic variant.
As a parent, sometimes the most powerful answer you can give your children is “no”.
Once they know where the boundaries are, they just might stop trying to navigate the gray area to find loopholes. The same can be said for genomic variant curation.
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.
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.