Genetics Lab Annotation Specialist
- Toronto, ON
- On-site
- Posted Oct 8, 2026
- 1 position
$82,265–$102,880 / year
Opens an external site
- Employment type
- Full-time
- Experience level
- Mid-level · 2+ years
- Minimum education
- Master’s degree
- Apply by
- Oct 21, 2026
- Posting language
- English
- Working hours
- 38 hours per week
Job summary
The specialist will support the Division of Diagnostic Medical Genetics by performing variant analysis, literature searches, and phenotype-genotype assessments. They will also assist in quality improvement strategies and the implementation of new databases within the laboratory testing process.
Job details
Sinai Health is looking for a Genetics Lab Annotation Specialist to support Pathology and Laboratory Medicine, Medical Genetics team at Mount Sinai Hospital. This role will be shared between the cytogenetics and molecular diagnostics labs within the Division of Diagnostic Medical Genetics. It requires familiarity with genomic microarray technologies, cancer diagnostics and novel variant assessment and proficiency in genomic data interpretation. In this role you will Assist with molecular and cytogenetic analysis by performing database and literature searches to provide evidence to assist with variant analysis Establish phenotype-genotype links, review a large spectrum of genetic disorders Review patient reports for completeness of testing information Assist with the investigation of new genes and roll out of information when tests go live Assist with quality improvements strategies and efficiencies related to cytogenetic and molecular data interpretations and assessments Assist with the assessment and implementation of new databases into the testing process Participate in quality assurance plans and activities as required Perform other duties consistent with the job classification as required Job Requirements: Mandatory M.Sc. or Ph.D. degree in a related field from an accredited educational institution with a strong background in genomic database utilization 1 year of experience in an analytical and scientific environment with genetics concepts and/or genetic counselling Applicants with proven equivalent and related training and experience may also be considered Skills and Knowledge Excelled time management and communication skills Expertise in pertinent areas such as microarray and sequence analysis, online human genomic resources, as well as fundamental knowledge in human genetics Self-motivated and a team player with high degree of independence and professionalism to provide high-level genetics expertise to health care providers Demonstrated satisfactory performance and attendance history If this sounds like you and you’re ready to build your career within pathology and laboratory medicine, apply now and let us know why you’d be a great addition to our team. Job Type: Full Time Hours: 37.5 hours per week Vacancy Type: New/Replacement Vacancy Union: Non-Union
What you’ll do
The specialist will support the Division of Diagnostic Medical Genetics by performing variant analysis, literature searches, and phenotype-genotype assessments. They will also assist in quality improvement strategies and the implementation of new databases within the laboratory testing process.
Requirements
Candidates must hold an M.Sc. or Ph.D. in a related field with a strong background in genomic database utilization. A minimum of 1 year of experience in an analytical scientific environment focusing on genetics concepts is required.
Listed skills
- Quality assurance · Preferred
- Communication Skills · Preferred
- Time management · Preferred
- Data analysis · Preferred
Other relevant skills
Identified from the job description. Confirm important requirements above.
- Genomic microarray
- Cancer diagnostics
- Variant assessment
- Genomic data interpretation
- Cytogenetics
- Molecular diagnostics
- Database management
- Literature search
- Phenotype-genotype analysis
- Quality assurance
- Human genetics
- Sequence analysis
- Communication skills
- Time management
- Data analysis
- Genome Database
- Data Interpretation
- Professionalism
- Phenotyping
- Genotyping
- Self-Motivation
- Quality Improvement
- Medical Laboratory
- Communication
- Pathology
- Genetics
- Medical Genetics
- Molecular Diagnostics
- Sequence Analysis
- Quality Assurance
- Time Management
- Genetic Disorders
Job areas
- Healthcare
- Science & Research
- Data & Analytics
- Laboratory Specialist
- Geneticist
- Biologists, Botanists, Zoologists and Related Professionals
- Geneticists
- Biological Scientists, All Other
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