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Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Faculty Investigator, HudsonAlpha Institute for Biotechnology
    Biography

      Greg Cooper, PhD, is a faculty investigator at the HudsonAlpha Institute for Biotechnology. Throughout his career, Cooper has focused on understanding the structures, functions and evolutionary histories of human genomes and finding ways to translate that understanding into useful predictions about human health and disease. Cooper earned a PhD in genetics from Stanford University in 2006. He completed postdoctoral research at the University of Washington in 2009 before joining HudsonAlpha in 2010.


    Abstract

    Precise diagnosis of neurodevelopmental disorders (NDDs), which often have genetic causes, is a challenging and important problem.  Here we describe the results of a recent pilot study using PacBio CCS sequencing reads, which are both long and accurate the basepair level, to analyze 6 proband-parent trios affected by an NDD that remains undiagnosed after extensive testing, including short-read genome sequencing.  Our results suggest that long-read genomes may reveal biologically and clinically relevant information in many families affected by unexplained NDDs.

    Learning Objectives:

    1. Understand the role of genome sequencing for neurodevelopmental disorder diagnosis

    2. Define the types of genetic variation that can be uncovered more effectively by long reads than short reads


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