For many labs, scaling the analysis of genome sequence data for rare genetic disease cases presents a challenge. Traditional filtering approaches can leave analysts with hundreds of variants to interpret, increasing the turn-around time and leading to reviewer fatigue.
In this webinar, Jaime Lopes, laboratory director at Cincinnati Children’s Hospital, will present the hospital’s transition to a streamlined variant interpretation workflow that utilizes Fabric Genomics’ software and AI-driven gene prioritization algorithms. Lopes will present data that demonstrates how an AI-guided approach can reduce the number of variants to interpret, allowing variant scientists to focus more attention on a smaller number of high-quality candidates and, in turn, produce clinical grade results in a fraction of the time. Following Lopes’ presentation, Jeanette McCarthy will discuss how labs can extend their analysis to include prioritization and interpretation of copy number variants using Fabric’s software and AI.
Title: Scaling the Analysis of Rare Disease Cases in a Children’s Hospital Clinical Lab
Date: Friday, September 23, 2022
Time: 10:00 AM Pacific Daylight Time
           1:00 PM Eastern Daylight Time
           7:00 PM Central European Time
Duration: 1 hour
Jaime Lopes is an assistant professor and laboratory director at Cincinnati Children’s Hospital. She obtained her doctorate in molecular genetics and genomics from Wayne State University School of Medicine. Her doctoral research focused on uncovering novel germline predisposition loci for ovarian cancer. She completed a fellowship in laboratory genetics and genomics at the Mayo Clinic and recently became ABMGG board certified in September 2021. Lopes specializes in whole-exome and -genome sequencing and has a particular interest in providing answers for patients and families affected by rare and undiagnosed congenital disorders.
Jeanette McCarthy, Fabric Genomic’s Vice President of Precision Medicine, 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. McCarthy has worked with Fabric Genomics since 2013 on the development of software for genome analysis and variant interpretation and currently leads clinical services and product and customer success. McCarthy is coauthor of the book, Precision Medicine: A Guide to Genomics in Clinical Practice (2016, McGraw Hill Education).
