Applying a New Exome Sequencing Method in Medical and Translational Research

Fundamental Research, Life Sciences,
  • Friday, October 23, 2015

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


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.

Message Presenter

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.

Message Presenter

Who Should Attend?

  • Genetics and Genomics Researchers
  • Principle Investigators
  • Laboratory Scientists
  • Genome Center Directors
  • Clinical and Translational Researchers
  • Cancer/Oncology Researchers
  • R&D Directors, Managers in Pharmaceutical and Biotechnology Companies
  • Agricultural Genetic Researchers

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Roche NimbleGen is an innovator in the life sciences market focused on research activities and manufacturing target enrichment probe pools for DNA sequencing. Capitalizing on the efficiencies inherent with parallel enrichment, researchers can now design economical, high throughput, and time-saving next-generation sequencing experiments. Next-generation sequencing combined with Sequence Capture probe pools offers researchers a clearer understanding of genomic structure and function in order to understand the impact of genes on biological processes. We are part of the innovations in sequencing solutions for life science research, now and in the future.

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