Technology Webinars

Exome Sequencing in Today’s Lab:

Shifting the Paradigm in Translational and Clinical Research

This event occurred on Wednesday, December 4, 2013
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Next generation sequencing technologies have enabled a rapid expansion toward the understanding of inherited disorders, cancer biology, drug development, and treatment resistance. Exome sequencing has been increasingly and successfully applied in the clinical research setting for identifying common single nucleotide variants, copy number variations, and small insertions or deletions as well as rare de novo mutations that may explain Mendelian, complex, and rare genetic disorders. Recent advancement in rapid and low-cost exome sequencing make it an attractive alternative to traditional targeted gene panel sequencing for clinical research, while maintaining the possibility of discovering mutations in genes previously not associated with a disorder. Furthermore, the exome encompasses approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations, making exome sequencing easier and cheaper than whole genome sequencing for identifying disease-causing variants in research. 

Researchers are now applying proband-father-mother (trio) exome sequencing to uncover variants that potentially either cause or modify the condition under study. In this webinar, the audience will learn about the current applications of exome sequencing in clinical research and its impact on the future of health care.

During the webinar, the speakers will:

  • Detail their clinical  research exome workflow from DNA to data analysis      
  • Compare exome sequencing to other variant screening approaches
  • Shed light on the current paradigm shift to exome sequencing for clinical research
  • Discuss how this shift may impact future clinical applications of exome sequencing
  • Answer your questions live on air!
Speaker Bios

Christian Marshall, Ph.D.

The Hospital for Sick Children
Toronto, Canada

Dr. Marshall completed his undergraduate and graduate training at Simon Fraser University in Burnaby, Canada. Following completion of his Ph.D. in 2005, he undertook a postdoctoral fellowship at The Hospital for Sick Children in Toronto, Canada. Since 2009, Dr. Marshall has been a research associate in genetics and genome biology at The Hospital for Sick Children, where he evaluates new genomic technologies and applies them in disease gene discovery. He is also the program manager at the McLaughlin Center at the University of Toronto, responsible for the strategic planning on scientific initiatives in genomic medicine. In 2007, Dr. Marshall won a two-year Young Investigator Grant from National Alliance for Research in Schizophrenia and Depression (NARSAD).

Christian Gilissen Ph.D.

Radboud University Medical Centre Nijmegen
The Netherlands

Dr. Gilissen studied computer science at the Radboud University Nijmegen before obtaining has Ph.D. in 2012 in the Department of Human Genetics at Radboud University Medical Hospital on the subject of identifying Mendelian disease genes through next generation sequencing. He received the Dutch Bioinformatics Young Researcher Award for this work. After his Ph.D., Dr. Gilissen continued his work in Nijmegen as a postdoctoral researcher and contributed to various studies on the implementation of next generation sequencing in the clinic. In 2013, he received a personal Veni grant from the Dutch Organization for Scientific Research to develop novel methodologies based on normal genetic variation in order to predict gene function and the impact of mutations. His current work focuses on the interpretation and clinical utility of whole genome sequencing data for patients with intellectual disability.

Moderator: Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently Dr. Sanders is the Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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