Annotation Analyst, Laboratory Medicine

UHN is Canada’s #1 hospital and the world’s #1 publicly funded hospital. With 10 sites and more than 44,000 TeamUHN members, UHN consists of Toronto General Hospital, Toronto Western Hospital, Princess Margaret Cancer Centre, Toronto Rehabilitation Institute, The Michener Institute of Education and West Park Healthcare Centre. As Canada's top research hospital, the scope of biomedical research and complexity of cases at UHN have made it a national and international source for discovery, education and patient care.

UHN has the largest hospital-based research program in Canada, with major research in neurosciences, cardiology, transplantation, oncology, surgical innovation, infectious diseases, genomic medicine and rehabilitation medicine. UHN is a research hospital affiliated with the University of Toronto.

UHN’s vision is to build A Healthier World and it’s only because of the talented and dedicated people who work here that we are continually bringing that vision closer to reality.

Union:  Non-Union

Number of Vacancies :  1
New or Replacement:
New
Site:  All Sites
Department:  Laboratory Medicine Program, Advanced Diagnostics

Reports to:

Senior Manager, Advanced Diagnostics

Hours:

37.5 hours per week
Salary: $37.85 to $56.77 per hour

Shifts:

All Shifts 24/7
Status:
Temporary Full Time (up to 1year)
Closing Date:  August 26, 2026

Position Summary
Join UHN's Laboratory Medicine Program, Canada's largest hospital diagnostic lab and a global leader in academic labs. With over 30 million tests per year and 1,300 outpatients served daily, we are at the forefront of pathology and clinical testing. Embrace innovation and contribute to ground-breaking research, education, and exemplary service. Join our dynamic team of 700 dedicated staff and play a pivotal role in shaping the future of laboratory medicine.

As an integral member of the Clinical Genomics team, the Annotation Analyst plays a key role in supporting the efforts of the Clinical Genome Diagnostics laboratory.

Duties

Utilizing software tools, databases and primary literature to investigate the clinical relevance of variants detected by genetic methods including next-generation sequencing (NGS)

Drafting concise variant interpretations

Utilizing practical and theoretical knowledge for the analysis of NGS and other laboratory data, including somatic and germline testing

Completing required database and reporting activities related to variant analyses

Completing assigned workload in a manner to ensure the efficient operation of the clinical laboratory

Participating in molecular profiling test development activities with laboratory technologists

Maintaining quality control standards in assigned area

Participating in communication activities to maintain and continually enhance the co-operation and coordination of services with other laboratory staff and with external lab clients

Participating in professional development, teaching/education activities, safety and quality improvement programs to ensure excellence in the provision of services

Adhering to Hospital and departmental mission and value statements while maintaining patient confidentiality

Master's degree in Molecular Genetics or related discipline required at minimum

6 months minimum of relevant experience required

Knowledge of and experience with molecular genetic variant assessment techniques

Knowledge of and experience with the use of genetic databases / resources and software (e.g. HGMD, COSMIC, gnomAD, cBioPortal, CICiC, Clin Var)

Knowledge of and experience with the theory and application of NGS platforms and NGS analysis

Knowledge of the theory and practice of current NGS laboratory procedures, instruments, equipment and special techniques

Excellent problem recognition and problem solving skills

Effective organizational, time management and prioritization skills

Excellent verbal and written communication skills

Ability to learn quickly, take in and distill large amounts of information and apply scientific knowledge

Scientific curiosity and interest to stay on top of emerging scientific data and trends as it pertains to the role

Demonstrated ability to take initiative, multitask and think critically

Ability to work…