Webinar: Strategies for Improving the Diagnostic Yield of WGS/WES in Rare Disease

INVITED TALK

Precision Medicine Leaders Summit Virtual Series 2021

Strategies for Improving the Diagnostic Yield of WGS/WES in Rare Disease

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Abstract

Next-generation sequencing provides diagnoses for thousands of children with rare disease every year, but approximately 60% of cases remain unsolved. In this presentation, we’ll discuss strategies for improving the diagnostic yield, including expanded reporting, incorporation of CNV analysis and routine reanalysis.

Speakers

Jeanette McCarthy, MPH, PhD headshot, round

Jeanette McCarthy, MPH, PhD, Senior Director, Scientific Programs, Fabric Genomics

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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