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In some cases, our laboratory, data analysis and clinical interpretation teams need to go the extra mile in their attempt to identify the genetic cause of a patient’s disease.

The Blueprint Genetics Clinical Research & Development (R&D) team has been hard at work on challenging cases, which have involved different types of structural variants and transposable element insertions. In some situations, these efforts have led to uncovering novel types of disease-causing variants in specific genes. During this webinar, Blueprint Genetics’ Clinical R&D lead, Dr Johanna Sistonen, will present some of the team’s most challenging cases and describe how their above and beyond efforts led to the identification of the molecular diagnoses for the patients.

Patient cases include:

• Single exon deletions in various cardiovascular conditions
• A ribosomal protein gene inversion explaining a diagnosis of Diamond-Blackfan anemia
• Transposable element insertions as novel disease-causing variants in inherited eye diseases and syndromic hearing loss

Webinar objectives:

• Describe how structural variants and transposable elements are variant types that are increasingly recognized as causes for inherited diseases
• Demonstrate the clinical importance of high-resolution CNV analysis
• Explain how customized methods are needed to detect and confirm challenging disease-causing variants

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