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Solving the Diagnostic Riddle

Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing

February 28, 2017
3 p.m. CEST

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Solving the Diagnostic Riddle: Diagnosing Heterogeneous Genetic Disorders With Whole Exome Sequencing

Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, a whole exome sequencing test examines thousands of genes simultaneously.

CentoXome®, CENTOGENE’s whole exome sequencing service, offers a fast and cost-effective one-step solution which involves sequencing the entire coding region.

Webinar Content:

  • Introduction to whole exome sequencing
  • Demonstration of “how”, “why” and “when” to use whole exome sequencing
  • Usage of HPO terms for patient/syndrome clustering
  • Clinical case examples
  • Understand why using our whole exome sequencing service (CentoXome®) will support you to increase your diagnostic rates

Our Speaker

CENTOGENE Webinar Speaker Oliver Brandau

Dr. Oliver Brandau

Director medical reporting

Dr. Oliver Brandau joined CENTOGENE in March 2015. He studied medicine and graduated […]

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