Clinical Genomics Annotation Analyst

University Health Network; Toronto; On-site; CAD 108,830,000 - 162,557,000; Full time

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

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.