Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.
• Subjects will have one or more of the following:
• Patients (probands) diagnosed with a genetic disease
• Patients (probands) with inconclusive genetic results
• Patients (probands) that have identical coding and/or splicing variants, but display highly diverse phenotypes
• Unaffected family members of probands