Research Associate, Genomic Specialist - Temporary Full Time (1.0 FTE) - CHEO Research Institute

About the role

Please send your resume with a cover letter to Andrea Dillon at adillon@cheo.on.ca with the position title in the subject line. Although we appreciate the interest of all candidates, only candidates invited for interviews will be contacted. No phone calls please. JOB DESCRIPTION Posting #RI-26-030 Posting Period - June 5 to June 19, 2026 TITLE: Research Associate, Genomic Specialist Newborn Screening Ontario New Position TERM: Full Time (1.0 FTE), 1 year term with possibility of renewal SALARY: $50 - $60/hour, will be commensurate with skills and experience REPORTS TO: Kristin Kernohan, Molecular Laboratory Head and INFANT Principal Investigator, Newborn Screening Ontario Children's Hospital of Eastern Ontario Research Institute ("CHEO RI") is the research arm of the Children's Hospital of Eastern Ontario - Ottawa Children's Treatment Centre ("CHEO") and an affiliated institute of the University of Ottawa. We acknowledge that Ottawa is built on un-ceded Algonquin Anishinabek territory. 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 RI also honours all First Nations, Inuit and Métis peoples and their valuable past and present contributions to this land CHEO is a beloved institution and workplace that is widely recognized for being an anchor in our community. CHEO RI works to create new knowledge and evidence to support CHEO in its provision of world-class care for our children. Our mission at CHEO RI is to connect exceptional talent and technology in pursuit of life-changing research for every child, youth and family in our community and beyond. CHEO RI has an immediate requirement for a Research Associate, Genomic Specialist with Newborn Screening Ontario. Newborn Screening Ontario (NSO) is a provincial program that provides universal screening for all newborns in Ontario for a wide range of serious but treatable conditions, using both biochemical and genetic technologies. The program integrates laboratory testing, clinical follow-up, and a coordinated network of treatment centres to ensure that infants identified through screening receive timely diagnosis, care, and intervention. NSO also provides genetic diagnostic evaluation for the conditions that are part of NBS, among others. We are currently conducting a study called INFANT: I dentifying at risk Newborns From the Analysis of NGS Testing which is a pilot using whole genome sequencing to identify a much larger number of rare but treatable diseases. We are looking for a highly motivated Research Associate, Genomic Specialist to support this work. The Research Associate, Genomics Specialist is responsible for the interpretation of genetic variants and drafting reports, as well as submission of data to internal and external databases. The Research Associate, Genomics Specialist is expected to troubleshoot software issues related to variant detection and variant interpretation and keep abreast of new variant interpretation guidelines, software tools, and databases.

Responsibilities

• Under the general supervision of Kristin Kernohan, Molecular Laboratory Head and INFANT Principal Investigator, Newborn Screening Ontario, the Research Associate, Genomic Specialist will:
• Maintain up-to-date knowledge of all technologies used in the Newborn Screening Ontario Molecular Laboratory
• Conduct literature reviews, database searches, and other analyses to assess the disease-causing potential of specific sequence/copy number variants
• Prioritize and classify variants according to the most recent ACMG guidelines, specifically incorporating evidence approved by the variant curation expert panels (VCEP)
• Generate draft reports in laboratory reporting software for review and reporting by Clinical Laboratory Scientists
• Submit data on identified sequence/copy number variants to relevant external databases
• Participate in training CCMG Fellows, Royal College Fellows, Genetic Counselling Students and other trainees
• Use knowledge base and experience to guide, mentor and support trainees and new staff
• Troubleshoot and resolve issues related to software used to detect and interpret the clinical significance of sequence and copy number variants
• Participate in ongoing professional development and continuous learning opportunities.
• Attend and contribute to staff meetings
• Participate in evaluation of products and processes, research projects, and quality improvement initiatives
• Contribute to the monitoring, optimization, and evaluation of bioinformatic and variant filtering pipeline performance
• Follow all relevant policies, procedures, protocols and guidelines (e.g. CHEO (IS) policy, OLA requirements, ACMG guidelines for variant interpretation and relevant scientific literature)
• Perform other related duties as assigned by supervisor
• QUALIFICATIONS, SKILL AND ABILITIES
• Ph.D. in molecular

Benefits

Additional Information

Compensation Pay Range: $0.00-$0.00

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