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Ann Arbor Spark

Webinar: 3 Simple Steps to Diagnose Rare Diseases in Minutes

from Thursday, October 03 2019 at 12:00am - Tuesday, September 03 2019 at 12:00am

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.

In this webinar, Drs. Cyrielle Kint from Diploid and Mark Kiel from Genomenon will introduce you to Moon, and demonstrate how the integration with Mastermind allows you to easily assess related variants that have been reported in literature.

You will learn how to: