Genetics Lab Annotation Specialist

5 months ago

Toronto, Canada Sinai Health Full time

**This is a temporary full-time opportunity for up to six (6) months.**

Sinai Health is a leading academic health science centre with a provincial, national and international reputation for discovering and delivering life-changing care. Since 2015, we have provided excellent and compassionate care in hospital, community and home. Comprised of Mount Sinai Hospital, Hennick Bridgepoint Hospital, the Lunenfeld-Tanenbaum Research Institute and our system partner Circle of Care, we translate scientific breakthroughs, push boundaries for health solutions, and educates future clinical and scientific leaders.

To support us on our journey, Sinai Health is looking for a **Genetics Lab Annotation Specialist** to support **Pathology and Laboratory Medicine, Diagnostic Medical Genetics **at our **Mount Sinai Hospital Campus**.

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.

Responsibilities include, but are not limited to:

- Assist with molecular and cytogenetic analysis by performing database and literature searches to provide evidence to assist with variant analysis
- Establishing phenotype-genotype links, reviewing 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
- Job Requirements- M.Sc. or Ph.D. degree in a related field from an accredited educational institution with a strong background in genomic database utilization
- Minimum of one (1) year of demonstrated analytical and scientific competence with genetics concepts and/or genetic counselling experience
- Applicants with proven equivalent recent and related training and experience may be considered
- 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

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