ACMG 2021 Virtual Conference | Fabric Genomics

ACMG 2021 Virtual Conference

Rapid identification of pathogenic structural variants in whole-genome sequence data from 60+ rare disease cases–Fully integrated into our industry leading AI clinical decision support system, Fabric Enterprise

April 13-16th, 2021

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Abstract

Analysis of structural variants (SVs) can improve the diagnostic yield of WGS/WES analysis for rare genetic diseases by 15-20%. However, SV analysis is fraught with challenges. Gene prioritization algorithms generally only consider SNVs, leaving the analysis of copy number variants (CNVs) and larger SVs to manual review.

Our presentation at ACMG 2021 details how the Fabric GEM algorithm uniquely offers a unified approach for analyzing both SNVs and SVs in a WGS rare disease workflow. In a single step, Fabric GEM executes rapid and accurate identification of casual variants for rare genetic diseases. This approach can improve the yield, speed and efficiency of rare genetic disease diagnostic testing.

Speaker

Jeanette McCarthy, MPH, PhD headshot, round
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Jeanette McCarthy, MPH, PhD

Sr. Director, Scientific Programs at 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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