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Research Seminar (4 Sep 2013)

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Research Seminar

Clinical Application of Next-Generation Sequencing

By

Professor Lee-Jun C Wong

Professor, Department of Molecular and human Genetics
Molecular Lab Director, Medical Genetics Laboratories
Baylor College of Medicine



4 September 2013 (Wednesday)

3:00 – 4:00pm



Seminar Room 7-03

7/F The HK Jockey Club Building for Interdisciplinary Research

5 Sassoon Road, Pokfulam, Hong Kong

 
Abstract:

The recent development of high throughput next generation sequencing (NGS) technology has transformed the way DNA-based molecular diagnostic testing performed in clinical laboratories. NGS allows parallel sequencing analyses of multiple genes effectively at any desirable depth of coverage. It is often difficult for clinicians to fully understand and utilize NGS-based tests effectively due to the sophisticated instrumentation, the enormous amount of data generated, the complex analytical tools involving sequence alignment, and bioinformatics for variant annotation. In this lecture, I will briefly review various target gene enrichment and NGS technologies; their application to clinical diagnostic settings; pros and cons among different NGS based tests; and accuracy, turnaround time, and cost of different approaches. Real examples will be given. In general, specific applications of NGS to the molecular diagnosis of clinically or biochemically defined but genetically heterogeneous diseases (e.g., congenital disorders of glycosylation, glycogen storage diseases, and retinitis pigmentosa) provide high detection rates. While NGS application to clinically and genetically heterogeneous disorders, such as epilepsies, intellectual disability, and dual genome mitochondrial respiratory chain disorders, is more difficult to “target” a specific group of genes. In this case, whole exome sequencing may be necessary.
 
 
 
About the Speaker: 

Please visit: Professor LJ C Wong's CV
 

ALL ARE WELCOME


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