The Clinical Variant Curator is a position that assists the clinical and developmental operations of the Diagnostic Molecular Genetics Laboratory to accurately identify and precisely classify variants/mutations detected through standard clinical
In addition to our existing mutation detection platforms, next-generation sequencing applications for germline targets will generate a large amount of variants which requires a focus towards curation, interpretation and classification. Using
information from existing databases, and more importantly, from literature, this specialist will help identify and assess genetic variant(s) in an individual as pathogenic or not. Such clinical interpretation is a critical component for the reporting of molecular genetic testing results.
Duties include assisting Laboratory Director in overseeing the test development and clinical testing pipelines in conjunction with the interpretation and classification of genetic variants identified. Cross-departmental communications with our Clinical Genetics Services (CGS) for clinical sign out is critical. Candidates should have a strong background in variant assessment computational tools and germline genetic knowledge. Additional opportunities in translational clinical developmental activities will also be offered.