
Genetics Lab Annotation Specialist
3 weeks ago
Sinai Health is looking for a Genetics Lab Annotation Specialist to support Pathology and Laboratory Medicine, Medical Genetics team 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.
**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 assigned and/or requested
- Job Requirements**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
- 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
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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