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The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations
Journal of Communication Disorders, Deaf Studies & Hearing Aids

Journal of Communication Disorders, Deaf Studies & Hearing Aids
Open Access

ISSN: 2375-4427

The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations


International Conference and Expo on Audiology and Hearing Devices

August 17-18, 2015 Birmingham, UK

Peter L Nagy

Keynote: Commun Disord Deaf Stud Hearing Aids

Abstract :

Next-generation sequencing in clinical practice allows for a critical review of the literature to evaluate disease relatedness
of specific genes and pathogenicity of individual mutations, while providing an important discovery tool for new disease
genes and disease-causing mutations. Data obtained from large panels, whole exome or whole genome sequencing, performed
for constitutional or cancer cases, need to be managed in a transparent, yet powerful analytical framework. Assessment of
reported pathogenic potential of a variant or disease association of a gene requires careful consideration of population allele
frequency, variant data from parents, and precise, yet concise phenotypic description of the entire family and other individuals
or families that have the same variant. The full potential for discovery can only be realized if there is data sharing between
clinicians performing the interpretation worldwide and structural biologists, analytical chemists and cell biologists interested
and knowledgeable of the structure and function of the genes involved.

Biography :

Peter L Nagy has received his MD degree from the University of Pecs, Hungary in 1989. He has obtained his PhD at Purdue University in Biochemistry under the
mentorship of Dr. Howard Zalkin and his Anatomic and Molecular Genetic Pathology training at Stanford University working on the MLL gene with Michael Cleary
and Roger Kornberg. His research is on neurodegenerative disorders like ALS and young adult onset ataxias (AOA2). He built and oversees the clinical nextgeneration
sequencing facility in the Laboratory of Personalized Genomic Medicine at Columbia University Medical Center.

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