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, reviewa large spectrum of genetic disorders

Review patient reports for completeness of testing information

Assist with the investigation of current 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 ananalytical 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

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📌 Genetics Lab Annotation Specialist (Ontario)
🏢 Sinai Health
📍 Ontario