Whole-Exome Sequencing Diagnostics For Patients with Intellectual Disability at UMC Utrecht: a Tiered and Automated Approach Using Alissa Interpret
Whole-Exome Sequencing Diagnostics For Patients with Intellectual Disability at UMC Utrecht: a Tiered and Automated Approach Using Alissa Interpret
8 PagesIntroduction Diagnostic trio Whole-Exome Sequencing (WES) has proven to be an important tool for diagnosing heterogeneous genetic diseases. Especially for patients with syndromic or non-syndromic intellectual disability, WES is increasingly being used as part of the genetic diagnostic workup. In order to provide the best standard of service to its referring physicians and their patients, the Genome Diagnostics laboratory at the University M
