Clinical exome sequencing was launched in Nijmegen in late 2010 and the first applications included 100 intellectual disability trios as well as 250 exomes investigating strong heterogeneous diseases of blindness, deafness, movement disorders, OXPHOS disorders, and cancer.

Since then, Dr. Marcel Nelen and his team at Radboud University Medical Centre have run more than 40,000 clinical exomes and expanded their clinical spectrum such that all major organ systems have their own “virtual” gene panel.

In this webinar you will:
- Hear about the diagnostic set-up at Genome Diagnostics Nijmegen, including an ‘in silico disease panel’ analysis per disorder followed by genome-wide exome analysis, if requested.
- Consider why clinical whole exome sequencing (WES), which offers a generic unbiased approach with a high diagnostic yield, clearly shows a favorable scenario for both the patient and clinician.
- Learn how the need to diagnose patients in crisis situations and prenatal cases led to Genome Diagnostics Nijmegen developing a rapid (5-7-day turnaround time) WES workflow.
- Hear how demand for this rapid WES workflow increased from a few samples a month to 300-400 samples each month and has led to the group establishing an automated workflow combining Twist Target Enrichment and Covaris Mechanical Fragmentation on a Hamilton platform.
- Explore how the completeness and evenness of data generated using the Twist Exome has helped the group dramatically reduce their costs.

свернуть