Applying a New Exome Sequencing Method in Medical and Translational Research

Exons make up approximately 2% of the genome, yet contribute to 85% of known Mendelian diseases. With the needs to improve coverage of the medically relevant regions and gain more confidence in variant calling, the research community continues to raise the bar when evaluating the performance of an exome in medical and translational research.

Join this complimentary webinar as our featured speaker, Dr. Shrikant Mane, discusses the use of the SeqCap EZ MedExome Target Enrichment Kit from Roche and other methods at Yale Center for Genome Analysis (YCGA), as well as:

• Specific metrics used to evaluate performance of MedExome
• The bioinformatics pipeline used to determine the metrics
• Specific case studies and conditions where MedExome has improved utility

Speakers

Shrikant M. Mane, PhD, Director, Yale Center for Genome Analysis

Dr. Mane has been the director of the Yale Center for Genome Analysis since 2009, and has been with Yale University School of Medicine since 2001. He leads research activities under numerous grants, and also serves as the director of the Microarray Resource and the W.M. Keck Foundation Biotechnology Resource Laboratory. Dr. Mane earned his Ph.D. in Applied Biology and an M.S. in Human Physiology and Biochemistry from the University of Bombay. Dr. Mane also was a post-doctoral fellow at Johns Hopkins University.

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Michael Brockman, PhD, Manager of Research Informatics, Roche NimbleGen

Dr. Brockman is Manager of Research Informatics at Roche NimbleGen in Madison, Wisconsin, USA. He has been at Roche NimbleGen since 2009 as part of the research and development group specializing in bioinformatics. He received a PhD in Bioinformatics from Boston University. At Roche NimbleGen, he was part of the MedExome development team and is currently working on new target enrichment tools.

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