Cincinnati Children’s Hospital Webinar | Fabric Genomics

WEBINAR

Implementation of whole-exome and panel testing for rare disease at Cincinnati Children’s Hospital

March 9th, 2021  |  10AM PT / 1PM ET

Abstract

The growth of NGS testing presents both opportunities and challenges for clinical, informatics and laboratory teams. This webinar discusses best practices and lessons learned for implementing and scaling whole-exome and panel testing in a leading children’s hospital. This includes both clinical considerations as well as end-to-end integration with the EPIC EHR and the Beaker LIS for seamless workflow and regulatory compliance.

Highlights

In this webinar, you will learn:

  • Tips to optimize diagnostic yield and turnaround time
  • Information to implement a solution that will scale efficiently and accurately as test types and volumes increase
  • Best practices to ensure quality and regulatory compliance

Speakers

Wenying Zhang, Molecular Director at Cincinnati Children's, headshot

Wenying Zhang, MD, PhD, MBA, FACMG

Director, Laboratory of Genetics and Genomics, Division of Human Genetics
Associate Professor, UC Department of Pediatrics

Dr. Wenying Zhang is an ABMGG-certified clinical molecular geneticist, Director of the Laboratory of Genetics and Genomics at Cincinnati Children’s Hospital Medical Center, and Associate Professor of the University of Cincinnati College of Medicine. Dr. Zhang will be describing clinical use cases seen at Cincinnati’s Children’s hospital and presenting how some of those cases have been analyzed using Fabric Genomics’ complete end-to-end clinical application for diagnostic whole-exome testing.

James Denton, Bioinformatician at Cincinnati Children's, headshot

James Denton

Bioinformatician
Cincinnati Children’s Hospital Medical Center

James Denton received a master’s degree in Bioinformatics at Indiana University. James has worked for Cincinnati Children’s Hospital Medical Center since Spring 2014 for the Laboratory of Genomics and Genetics, and was originally hired for the exome sequencing project. Since that time, the bioinformatics team’s technical abilities have been incorporated into varying aspects of the lab to create a number of integrated, custom-built applications and pipelines. Cincinnati maintains an Epic / Beaker interface with Mirth middleware, a custom-built LIMS with integrated Fabric Genomics analysis, back-end Oracle database, and next-generation sequencing pipelines for gene panels and exomes sequencing, in addition to many other modules to support the lab’s broad testing menu.

Vanisha Mistry, PhD headshot
Fabric_GenomicsTM_Logo_black_CC

Vanisha Mistry, PhD

Scientist, Fabric Genomics

Vanisha Mistry obtained her PhD in Digestive Disease genetics at Queen Mary, University of London. She did her postdoctoral research at the University of Cambridge, investigating the genetics of early-onset obesity.

She moved on to work for Genomics England before joining Fabric Genomics in 2016 as a Field Application Scientist.

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