Comprehensive Novel Variant Discovery in Hereditary Cardiology and Neurology Research using Next-Generation Sequencing

Life Sciences, Laboratory Technology, Fundamental Research,
  • Tuesday, September 11, 2018

Join this webinar to learn about how next-generation sequencing and Roche’s SeqCap EZ Cardiology and Neurology Panels enable researchers to discover novel variants in genes that are most commonly associated with hereditary cardiac and nervous system disorders, respectively. Using guidance from peer-reviewed publications and Roche Sequencing Solutions’ scientific expertise, a suite of three SeqCap EZ Cardiology Panels and a suite of six SeqCap EZ Neurology Panels were developed. These panels were subsequently optimized for use with the HyperCap Workflow, which integrates KAPA library preparation and SeqCap EZ target enrichment products in a single streamlined workflow.

Some of the features of the panel include expert-driven gene content, sufficient breadth for variant discovery in various cardiological and neurological research applications, increased sequencing efficiency, improved uniformity to enable more even target coverage, and a complete sample prep solution.

The suite of SeqCap EZ Cardiology Panels for research includes:

  • A cardiomyopathy panel which targets 76 genes associated with cardiomyopathies (primary target size: 372 kb)
  • A channelopathies and arrhythmias panel which targets 54 genes associated with channelopathies and arrhythmias (primary target size: 203 kb)
  • A sudden cardiac death panel which targets 140 genes associated with cardiomyopathies, channelopathies/arrhythmias and sudden cardiac arrest (primary target size: 610 kb)

The suite of SeqCap EZ Neurology Panels for research includes:

  • An epilepsy panel which targets 168 genes associated with epilepsy (primary target size: 440 kb)
  • A movement disorders panel enriches 209 genes associated with movement-related disorders (primary target size: 540 kb)
  • A neurodegeneration panel which targets 98 genes associated with neurodegenerative disorders (primary target size: 239 kb)
  • A neurodevelopment panel which targets 181 genes associated with neurodevelopmental disorders (primary target size: 557 kb)
  • A neuromuscular panel targets 144 genes associated with neuromuscular disorders (primary target size: 561 kb)
  • A neuropathy panel which targets 93 genes associated with neuropathological disorders (primary target size: 259 kb)

Research use of these SeqCap EZ Cardiology and SeqCap EZ Neurology panels may enable future discovery of novel disease-causing genetic variants.

Dr. Todd Richmond will provide insights on development of Roche’s newest designs in the areas of hereditary cardiology and neurology research.

For Research Use Only. Not for use in diagnostic procedure.
HYPERCAP, KAPA AND SEQCAP are trademarks for Roche.


Todd Richmond, Director of Research Informatics, Roche

Dr. Richmond holds a PhD degree from the Department of Genetics at the University of Wisconsin-Madison. Todd joined RSS Madison (formerly NimbleGen) in 2001 and is currently the Director of Research Informatics, responsible for providing bioinformatics and statistical support to the development and innovation teams. He has been a key contributor to Roche’s innovative probe design methodologies for DNA capture, for both human and non-human products, and to their products for studying epigenetics and RNA expression.

Message Presenter

Who Should Attend?

  • Pharmaceutical and Biotechnology Companies
  • Medical Device Manufacturers
  • Healthcare Institutions
  • CROs
  • Sequencing Facilities (from genome centers to small core facilities)
  • Commercial Sequencing Service Providers

What You Will Learn

Join this webinar to learn about how next-generation sequencing and Roche’s SeqCap EZ Cardiology and Neurology Panels enable researchers to discover novel variants in genes that are most commonly associated with hereditary cardiac and nervous system disorders, respectively.

Xtalks Partner

Roche Sequencing Solutions

Roche Sequencing Solutions is working to make next-generation sequencing simple and accessible enough for routine clinical use. We are developing differentiated, highly integrated end-to-end solutions for next-generation sequencing (NGS), resulting in a sample inresult out workflow. Roche is innovating across the sequencing workflow, from strong sample isolation and preparation tools, to novel sequencing technology, medical content, and advanced informatics solutions.  

Unless explicitly stated otherwise, all Roche products and services referenced in this presentation/document are intended for the following use:
Research Use Only. Not for use in diagnostic procedures.
KAPA is a trademark of Roche. All other product names and trademarks are the property of their respective owners.

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