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.

About Moon Diagnostic Software

Moon is a platform that uses artificial intelligence to autonomously diagnose rare Mendelian diseases. Based on an input VCF file containing variants from whole exome or whole genome data, and some patient information (gender, age of onset and symptoms as HPO terms), Moon suggests a causal variant within minutes.

Thanks to its extensive knowledge on rare disease genetics, Moon typically only returns a very short list of variants (4-8 variants on average) that is presented for manual review. Although this already dramatically speeds up the diagnostic interpretation process, you still need to spend some time to assess the clinical relevance of these few remaining variants.

Moon and Mastermind

To make variant curation faster and more enjoyable, Moon is now integrating with Genomenon’s Mastermind Genomic Search Engine: a database of all genetic variants ever published in books and papers, including the supplemental data.

Mastermind is comparable to HGMD, but instead of containing 250,000 variants – like the most recent version of HGMD – the Mastermind database currently contains 3.8 million variants, about 15 times more! Best of all, Mastermind’s Basic edition is free.

Mastermind Contains 15X More Variants than HGMD

Moon now annotates every variant that is present in the Mastermind database: if a variant has ever been mentioned in the literature, you’ll now see this right away in Moon. Moon also indicates the number of publications mentioning a specific variant. Clicking the Publications link takes you directly to Mastermind, where you can review each publication and click out to the publisher’s website for full text.

Instantly See the Number of Publications Mentioning your Variant

 

The introductory video below explains how to use Mastermind to explore literature relevant for a specific variant of interest.

Mastermind Tutorial: Exploring Variants

 

By integrating with Mastermind, evaluating the shortlist of reported variants by Moon has become even more efficient, thereby further establishing Moon as the fastest and most efficient workflow for rare disease diagnostics.

I invite you to try out Moon and its integration with Mastermind with your own data, by signing up for a free Moon trial account at https://moon.diploid.com/users/sign_up.

Read the press release about the Diploid/Genomenon partnership