Getting More from your Sequencing data: Copy number variant detection by Next Generation Sequencing

Tuesday, March 19, 2019
Getting More from your Sequencing data: Copy number variant detection by Next Generation Sequencing
Tuesday, March 19, 2019 11:00 AM - 12:00 PM (Pacific Time)


Description of Program Content:
This webinar will review different technologies used for the detection of copy number variants (CNV), with an emphasis on the use of next generation sequencing (NGS) data to detect CNVs. The presentation will include an introduction to CNVs and the different technologies currently used by clinical genetic testing labs for CNV detection in patient specimens. An overview of the validation of CNV detection using NGS data will be provided and case examples will be presented to demonstrate the value of including CNV detection in NGS tests.


Measurable Learning Objectives 
At the end of this activity the participant will be able to:
1. Explain the benefits and limitations of copy number variant detection by next generation sequencing
2. Compare copy number variant detection by next generation sequencing to other methods of copy number variant detection such as microarray
3. Provide examples of how performing copy number variant detection by next generation sequencing adds value to a sequencing test

Presenter:  Diane Allingham-Hawkins, PhD, FCCMG, FACMG
Senior Laboratory Geneticist
Dean of Geneticists
PreventionGenetics, LLC

Bio:
Dr. Diane Allingham-Hawkins is a Senior Laboratory Director and Dean of Geneticists at PreventionGenetics, LLC, in Marshfield, WI. She is dual-certified in molecular genetics and cytogenetics by the Canadian College of Medical Geneticists (CCMG). Dr. Allingham-Hawkins earned her BSc in Honors Genetics from the University of Western Ontario in 1987 and her PhD in Human Genetics from McMaster University in 1993. She completed her post-doctoral fellowship in Molecular Genetics at the Hospital for Sick Children in Toronto, Canada in 1995. Prior to joining PreventionGenetics in February 2016, Dr. Allingham-Hawkins was a private genetics laboratory consultant from 2015 to 2016 and Senior Director of Genetic Test Evaluation and Technical Editing at Hayes, Inc. from 2008 to 2015.

 

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