Genome Analyst – Molecular Genetics
Company
Kingston Health Sciences Centre
Location
Kingston, ON
Duties
Technical:
Applying critical thinking skills and judgment to analyze and write variant annotations for genetic testing using variant data from next-generation sequencing (NGS), qPCR and other testing
Interpretation of genetic variants
Conduct literature reviews, data base searches and bioinformatics analysis to assess the disease-causing potential of specific sequence/copy number variants.
Summarize current state of knowledge of specific variants and generate draft reports in accordance with guidelines for variant interpretation (e.g. ACMG, HGVS) for review and reporting by Clinical Laboratory Geneticist.
Communicates with various medical and scientific specialists regarding variant interpretation
Prioritize cases to maintain strict turnaround times
Operational:
Submission of data to internal and external databases
Submit data on identified variants to relevant databases
Submit clinical data pertinent to variant interpretation to relevant databases’
Develop and maintain internal databases
Educational and Staff Development:
Participate in teaching as it pertains to variant detection and interpretation
Participate in training new hires and relevant trainees as required
Present at Education Rounds on subjects relevant to variant detection and interpretation
NOTE - The above duties are representative but are not to be construed as all-inclusive.
Requirements
Completion of a Masters degree in Medical Genomics program with Variant Interpretation Training or a recognized equivalent required.
3 years recent and related experience in genetic counselling or as a variant interpretation analyst required.
Knowledge and experience with molecular genetic variant assessment techniques.
Knowledge and experience with the use of genetic databases and resources and software for example, COSMIC, IGV, ClinVar, Alamut is essential.
Knowledge and experience with the theory and application of NGS platform is an asset.
Knowledge of the theory and practice of current NGS laboratory procedures, instruments, equipment and special techniques.
Proven ability to attend work regularly.
Satisfactory criminal reference check and vulnerable sector search required.
Salary
$92,857-$111,429
Contact
Name
Brian Fenlon
Job Posting Link
Kingston Health Sciences Centrewebsite
Display Date
2025-02-25
Expiry Date
2025-03-25