Clinical rapid whole exome sequencing with a Twist

How Radboud University Medical Center integrate exome sequencing to study disease

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Presented by

Marcel Nelen

Radboud University Medical Centre

Covered in this Webinar

Hear about the diagnostic set-up at Genome Diagnostics Nijmegen

Consider why clinical whole exome sequencing is favorable for both the patient and clinician.

Learn how Genome Diagnostics Nijmegen developed a rapid, automated whole exome sequencing workflow

Explore the completeness and evenness of data generated using the Twist Exome

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.

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Genes

Oligo Pools

NGS Target Enrichment Solutions

Variant Libraries

Synthetic Controls

Antibody Discovery

Clinical rapid whole exome sequencing with a Twist

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NGS Methylation Detection System