Annotation Analyst, Laboratory Medicine

University Health Network

Toronto

On-site

CAD 108,830,000 - 162,557,000

Full time

12 days ago

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Benefits offered by this job

Competitive offer packages
HOOPP pension plan
Transit access
Flexible work environment
Development opportunities
Corporate discounts

Job summary

University Health Network (UHN) is Canada’s largest hospital and a global leader in clinical genomics. The Annotation Analyst will support the Clinical Genome Diagnostics laboratory in variant assessment using NGS and related methods, drafting interpretations and ensuring quality control across the testing process.

Join a team within the Laboratory Medicine Program, Advanced Diagnostics, contributing to precision medicine in a high-volume diagnostic setting at UHN.

Qualifications

  • 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 genetic databases / resources and software (e.g. HGMD, COSMIC, gnomAD, cBioPortal, CICiC, ClinVar).
  • Knowledge of NGS platforms and NGS analysis.

Responsibilities

  • Investigate clinical relevance of variants detected by genetic methods including NGS.
  • Draft concise variant interpretations.
  • Analyze NGS and other laboratory data, including somatic and germline testing.
  • Complete required database and reporting activities related to variant analyses.
  • Maintain quality control standards in assigned area.
  • Participate in molecular profiling test development activities with technologists.
  • Communicate with laboratory staff and external lab clients.

Skills

Problem solving
Time management
Communication skills
Independent work
Multitasking
Critical thinking
Learn quickly

Education

Master's degree in Molecular Genetics

Tools

HGMD
COSMIC
gnomAD
cBioPortal
ClinVar
CICiC

Job description

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.

www.uhn.ca

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 Genomicsteam, the Annotation Analystplays 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, ClinVar)
  • 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 independently and with cross-functional team members
Why join UHN?

In addition to working alongside some of the most talented and inspiring healthcare professionals in the world, UHN offers a wide range of benefits, programs and perks. It is the comprehensiveness of these offerings that makes it a differentiating factor, allowing you to find value where it matters most to you, now and throughout your career at UHN.

  • Competitive offer packages
  • Government organization and a member of the Healthcare of Ontario Pension Plan (HOOPPhttps://hoopp.com/)
  • Close access to Transit and UHN shuttle service
  • A flexible work environment
  • Opportunities for development and promotions within a large organization
  • Additional perks (multiple corporate discounts including: travel, restaurants, parking, phone plans, auto insurance discounts, on-site gyms, etc.)

Current UHN employees must have successfully completed their probationary period, have a good employee record along with satisfactory attendance in accordance with UHN's attendance management program, to be eligible for consideration.

All applications must be submitted before the posting close date.

UHN uses email to communicate with selected candidates. Please ensure you check your email regularly.At University Health Network (UHN), artificial intelligence technologies may be used to assist in the screening, assessment, and selection of candidates for this position.

Please be advised that a Criminal Record Check may be required of the successful candidate. Should it be determined that any information provided by a candidate be misleading, inaccurate or incorrect, UHN reserves the right to discontinue with the consideration of their application.

UHN is an equal opportunity employer committed to an inclusive recruitment process and workplace. Requests for accommodation can be made at any stage of the recruitment process. Applicants need to make their requirements known.

We thank all applicants for their interest, however, only those selected for further consideration will be contacted.

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