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Genome Analyst, Genetics Program
2 weeks ago
Compensation Pay Range:
$38.57-$47.34
Job Description:
Ottawa is built on un-ceded Algonquin Anishinabek territory. The peoples of the Algonquin Anishinabek Nation have lived on this territory for millennia and we honour them and this land. Their culture and presence have nurtured and continue to nurture this land. CHEO also honours all First Nations, Inuit and Métis peoples and their valuable past and present contributions to this land.
CHEO is one of the few stand-alone, global leaders in pediatric health and is home to nearly 4,500 staff and physicians dedicated to helping children and youth live their best lives. Within its own walls and through partnerships with community providers, CHEO has transformed from a 20th century acute care hospital into a 21st century integrated child and youth health system. Ranked in the top 1% of Canadian hospitals for the digitization of its clinical infrastructure, CHEO combines excellence in clinical care, research, and education to advance seamless care that’s provided where, when, and how it is needed. CHEO’s Research Institute is dedicated to world-class clinical, translational, and basic science research covering a wide range of children’s health concerns. CHEO has been named as the best place to work in Canadian healthcare by Forbes Magazine and is ranked second among Canadian hospitals on its list of Canada’s Best Employers for multiple consecutive years. For the 10th consecutive year in a row, the editors of Canada's Top 100 Employers has recognized CHEO as a top employer in the National Capital Region. Every year CHEO helps more than 500,000 children and youth from Eastern Ontario, western Quebec, Nunavut and Northern Ontario.
As part of the CHEO Regional Genetics Program, the Genetics Diagnostic Laboratory provides comprehensive diagnostic genetic and genomic testing for both the pediatric and adult populations in Eastern Ontario, Western Quebec and Nunavut. The Laboratory provides testing for a number of inherited diseases through its Molecular Genetics section as well as testing for several constitutional conditions and acquired chromosome abnormalities through its Cytogenetics section.
The Genome Analyst interprets genetic variants, submits data to relevant internal and external databases, participates in education and teaching activities as well as other activities as required
MAIN RESPONSIBILITIES:
- Interpretation of genetic variants- Conduct literature reviews, database searches and bioinformatics analyses to assess the disease-causing potential of specific sequence/copy number variants- Summarize current state of knowledge for specific variants and generate draft reports in accordance with guidelines for variant interpretation (e.g. ACMG, HGVS) for review and reporting by Clinical Laboratory Scientists- Communicate with various medical and scientific specialists regarding variant interpretation- Submission of data to internal and external databases- Submit data on identified sequence/copy number variants to relevant databases- Submit clinical data pertinent to variant interpretation to relevant databases- Develop and maintain internal databases- Participate in teaching as it pertains to variant detection and interpretation- Participate in training new hires and relevant trainees as required-
- Conform to all laboratory safety regulations (as per the Occupational Health and Safety Act, CHEO corporate and/or departmental policies), and follow specific instructions of the designated safety officer- Participate in ongoing professional development and continuous learning opportunities.- Attend and contribute to staff meetings- Behave in accordance with all relevant policies, procedures, protocols and guidelines (e.g., CHEO (IS) policy, Accreditation requirements, ACMG guidelines for variant interpretation and relevant scientific literature)
QUALIFICATIONS:
- Criminal Records Check (Essential)- Master’s Degree in Medical Genomics (Essential)- Experience with analysis of sequence and/or copy number variants (Essential)- Experience with interpretation of sequencing data (Essential)- Advanced knowledge of Human Genetics and ability to effectively summarize complex information (Essential)- Advanced knowledge of and comfort with specialized software used for variant interpretation (e.g., Alamut, SIFT, PolyPhen-2, Mutation Taster, ChAS, NextGene) (Essential)- Comprehensive use of relevant computer technology (Essential)- Timely completion of tasks by adjusting priorities as required (Essential)- Effective and concise communication, both orally and in writing (Essential)- Bilingual (French /English) (preferred)
CHEO values diversity and is an equal opportunity employer. We are committed to providing an inclusive and barrier-free work environment, starting with the hiring process and welcome interest from all qualified applicants.
Should you require accommodation during any phase in the recruitment process, please contact Human Resources at
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