Webinar: 3 Simple Steps to Diagnose Rare Diseases in Minutes

Thursday, October 3rd, 2019 – 2:30 p.m. EDT


Dr. Cyrielle Kint

Chief Scientific Officer,

logo2-Mark Kiel 150x150

Dr. Mark Kiel

Co-Founder & Chief Scientific Officer, Genomenon

3 Simple Steps to Diagnose Rare Disease in Minutes

Join us as Drs. Cyrielle Kint from Diploid and Mark Kiel from Genomenon introduce Moon diagnostic software and demonstrate how integration with Mastermind allows you to easily assess related variants that have been reported in literature.

You will learn how to:

  • Use Moon for automated analysis of WES/WGS data

  • Manually filter variants in Moon based on custom criteria, including literature citations

  • Use Mastermind to easily find and analyze relevant variant data in the literature

With increasing use of genome and exome sequencing (WGS/WES) data in routine clinical practice, variant interpretation is now the bottleneck in rare disease diagnostics. This challenge is compounded by the accelerated pace of discovery of new variant-disease associations in research labs. Additionally, the need for reinterpretation of undiagnosed samples and the scarcity of skilled geneticists means new tools are needed in order to meet the demands of clinical genome interpretation.

Moon is the first clinical-grade software to use artificial intelligence to autonomously diagnose rare Mendelian diseases. Starting from an input VCF file containing variants from whole exome or whole genome data along with patient information (e.g. gender, age of onset and symptoms), Moon software prioritizes the causal variants within minutes.

Due to an extensive knowledge of rare disease genetics, Moon typically presents a short list of variants (between 4 and 8 variants on average) for manual review, along with the evidence necessary to confirm these calls. Diploid and Genomenon have partnered together to unite the benefits of Moon’s data aggregation and annotation capabilities with the power of the Mastermind Genomic Search Engine (exhaustive literature citations for genomic variants). As a result, if a variant has ever been mentioned in literature, you will see it right away in Moon, and be able to link directly to that evidence in Mastermind.

Thursday, October 3, 2019 – 2:30 p.m. EDT