Afternoon Short Course

Starting an NGS Lab Part I: Technical Considerations 


Monday, February 10, 2014 | 2:00 - 5:00 pm | Moscone North Convention Center | San Fransisco, CA 



Madhuri Hegde, Ph.D., FACMG. Associate Professor, Human Genetics, Executive Director, Emory Genetics Lab (2013-2014 AMP Genetics Subdivision Chair) 

2:00 Evolution of NGS Labs and Choosing the Right Instruments

Madhuri Hegde, Ph.D., FACMG. Associate Professor, Human Genetics, Executive Director, Emory Genetics Lab (2013-2014 AMP Genetics Subdivision Chair)

Next Generation sequencing (NGS) is now widely used in clinical genetic testing for inherited diseases and cancer. NGS has given laboratories the ability to test for a large number of genes in a single assay and this is now being quickly expanded to exome and genome sequencing. A significant number of genes in the human genome are not associated with disease so exome and genome analysis pipelines are designed differently than hot spot and targeted gene panels. This presentation will discuss the NGS utility in a clinical setting with specific examples in inherited diseases and cancer for hot spot mutations, panels and exomes sequencing. Workflow and sequence interpretation and analysis solutions will also be presented.

2:55 Quality and Compliance in Clinical NGS


Monica J. Basehore, Ph.D., FACMG, Director, Molecular Diagnostic Laboratory, Greenwood Genetic Center (AMP Member) 

Quality and compliance measures are technical considerations that are pertinent to every Next Generation Sequencing laboratory in order to ensure the accuracy and the quality of the data that is generated.  This presentation will focus on the professional standards and guidelines for quality and compliance that have been developed to date, with an emphasis being placed on instrument validation, assay validation, quality control procedures, proficiency testing, and the use of reference materials during routine testing.

3:15-3:30pm Refreshment Break 

4:05 Incorporating Bioinformatic Tools and Pipelines in Medical NGS


Birgit H. Funke, Ph.D., FACMG, Assistant Professor, Pathology, MGH/Harvard Medical School; Director, Clinical Research and Development, Laboratory for Molecular Medicine (AMP Member) 


With the advent of clinical next generation sequencing (NGS), molecular diagnostic laboratories experienced an unprecedented need to incorporate bioinformatic tools and pipelines into their routine operations. While the market is beginning to provide end-to end solutions, laboratory directors today face complex and non-traditional challenges in this novel and increasingly interdisciplinary field. This talk gives an overview of commonly used tools for the analysis and interpretation of clinical NGS data and highlights typical challenges and solutions.

5:00 End of Short Course 



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