Genome Analyst, Genetics Program

7 months ago

Ottawa, Canada CHEO Full time

Compensation Pay Range:
$38.57-$47.34

**Job Description**:
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
- All information received in relation to accommodation will be kept confidential and will be handled in compliance with the Accessibility for Ontarians with Disabilities Act.

We thank all those who apply, however, only those to be interviewed will be contacted.

CHEO is committed to providing a safe environment for staff, patients, and visitors. Consistent with that commitment, all applicants must be fully vaccinated against COVID-19 to be considered for any staff or volunteer opportunities. Applicants are also strongly encouraged to receive their COVID-19 booster shots when eligible to protect against the spread of COVID-19. Upon hiring, presentation of government issued documentation confirming full vaccination must be provided, or presentation of supporting documentation of a valid medical contraindication or other reasonable consideration pursuant to the Ontario Human Rights Code.

RÉSUMÉ DES FONCTIONS

Dans le cadre du Programme régional de génétique de CHEO, le Laboratoire de génétique fournit un diagnostic génétique exhaustif et un test génomique pour les populations pédiatriques et adultes dans l’Est de l’Ontario, l’Ouest du Québec et le Nunavut. Le Laboratoire offre des tests pour un certain nombre de maladies héréditaires par sa section sur la génétique moléculaire ainsi que des tests pour des troubles de constitution et des anomalies chromosomiques acquises par la section sur la cytogénétique.

Le ou la spécialiste interprète les variants génétiques, présente des données aux bases de données internes et externes pertinentes, participe aux activités éducatives e

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