sensitivity vs. specificity in variant search

Machine Learning Dramatically Enhances the Specificity of Variant Search Results in Mastermind

Powerful new machine learning algorithms for variant indexing deliver improved specificity for the Mastermind Genomic Search Engine.
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Mastermind vs. COSMIC

Mastermind vs. Manually Curated Databases: Head-to-Head Comparison with COSMIC Variant Database

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.
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Mastermind ACMG Interpretation Tool

Following ACMG Variant Interpretation Guidelines Just Got a Lot Easier

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.
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Mastermind Genomic Search Engine Updates – December 2017

Mastermind Genomic Search Engine Updates – March 2018

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.

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Google Scholar vs. Mastermind by Genomenon

Google Scholar vs. Mastermind: Variant Interpretation Comparison

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.

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Top Genes for Connective Tissue Neoplasms

Most Relevant Genes Cited for Bronchiectasis

By searching the millions of scientific articles indexed by the Mastermind Genomic Search Engine, we were able to find the most cited genes associated with Bronchiectasis in the genomic literature.

Below is a list of the diseases included in the Bronchiectasis disease ontology and the genes associated with Bronchiectasis ranked by number of citations.