Unlock the full-potential of whole genome sequencing for genetic screening and diagnosis with proven AI that lowers the cost while ensuring maximum diagnostic yield

WEBINAR

Unlock the full-potential of whole genome sequencing for genetic screening and diagnosis with proven AI that lowers the cost while ensuring maximum diagnostic yield

Abstract

Diagnostic sequencing for rare disease using whole genome/exome sequencing is becoming a routine part of care for critically ill newborns as well as children with undiagnosed diseases. This is possible due to advances in genome sequencing and AI methods that provide intelligent data analysis. At Fabric, we are leveraging our GEM AI technology, currently used by labs for diagnostic sequencing, for identifying disease-causing variants among ostensibly healthy individuals in the screening setting. Potential applications, including the use of GEM for genome-wide newborn screening, carrier testing and adult hereditary risk profiling, will be discussed.

Wednesday, June 8 at 9am PST

Speakers

Jeanette McCarthy, MPH, PhD, Vice President of Precision Medicine

Jeanette McCarthy is a genome scientist and educator working at the forefront of precision medicine implementation. As a faculty member at Duke University, she ran research programs on genetic underpinnings of complex diseases, both infectious and chronic. In 2013 she founded Precision Medicine Advisors, an education and consulting business focused on communicating genomics to non-technical audiences, including health care providers, patients and other stakeholders. Jeanette has worked with Fabric Genomics since 2013 on the development of software for genome analysis and variant interpretation and currently leads scientific programs and clinical services. Jeanette is coauthor of the book, Precision Medicine: A Guide to Genomics in Clinical Practice (2016, McGraw Hill Education).

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