MAY 11, 2016 1:30 PM PDT

Pediatric genetics - Applications of NGS in the Clinic

Speaker
  • Director of Laboratory Operations, Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Assistant Professor, University of Missouri-Kansas City, School of Medicine
    BIOGRAPHY

Abstract

The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to implement. The Center for Pediatric Genomic Medicine at Children's Mercy Hospital has been using NGS in both a research and clinical setting since its inception. Currently the center offers targeted panels, symptom driven exome, and whole genome sequencing clinically. This presentation will outline applications of next generation sequencing in a pediatric hospital. Real case examples will be used to highlight best use practices. The limitations and benefits of NGS in the clinic will be discussed. Additionally, the intersection of research and clinical testing, and how it is particularly applicable in genomic medicine will be discussed.

At the end of this presentation participants will:

  • Understand different applications of targeted, whole exome, and whole genome testing.
  • Recognize how NGS is impacting clinical care. 

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MAY 11, 2016 1:30 PM PDT

Pediatric genetics - Applications of NGS in the Clinic



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