Junior Genome Analyst, Medical Genetics, Cumming

3 weeks ago

Calgary, Canada The University of Calgary Full time

**Position Overview**

This position reports to the Program Manager.

These research projects involve next generation sequencing (NGS)-based testing (exomes and genomes) to identify the underlying cause of rare diseases and COVID related studies.

**Position Description**

**Summary of Key Responsibilities** (job functions include but are not limited to):
Genomic Expertise
- Implement analytical workflows using commercial NGS software tools or manual spreadsheet analysis to filter and prioritize genomic variants
- Perform analysis of pediatric COVID cohort
- Perform analysis to identify the underlying genetic basis of rare disease in patients; utilizes patient-specific clinical presentation and family information to effectively and efficiently identify potential disease-causing variants and limit harm associated with incidental findings
- Summarizes results and assists in writing case reports

**Qualifications / Requirements**:

- MSc in Medical Genetics, Molecular Genetics, Molecular Biology or related field, (PhD preferred)
- Experience performing data analysis to identify the underlying genetic basis of disease using next generation sequencing data (required)
- Experience in the use of commercial software (preferred)
- Experience in a clinical setting (preferred)
- Advanced understanding of human genetics and heredity
- Advanced understanding of molecular biology and mechanisms of disease
- Understanding of NGS including library preparation, sequencing, mapping, variant calling, variant annotation and associated quality metrics
- Proficient in the use of public databases, including GnomAD, ClinVar, OMIM, and performing literature searches
- Excellent verbal, written, and interpersonal communication skills

**Application Deadline**: March 23, 2023

**Additional Information**

This position is part of the AUPE bargaining unit, and falls under the **_Technical Job Family, Phase I_**.

To find out more about management and staff opportunities at the University of Calgary and all we have to offer, view our **Management and Staff Careers website**. For more information visit **Careers in the Cumming School of Medicine**.

The University strongly recommends all faculty and staff are fully vaccinated against COVID-19.

**About the University of Calgary**

The University of Calgary is Canada's leading next-generation university - a living, growing and youthful institution that embraces change and opportunity with a can-do attitude. Located in the nation's most enterprising city, the university is making tremendous progress on its Eyes High journey to be recognized as one of Canada's top five research universities, grounded in innovative learning and teaching and fully integrated with the community it both serves and leads. The University of Calgary inspires and supports discovery, creativity and innovation across all disciplines. For more information, visit **ucalgary.ca**.

The University of Calgary has launched an institution-wide Indigenous Strategy in line with the foundational goals of _Eyes High_, committing to creating a rich, vibrant, and culturally competent campus that welcomes and supports Indigenous Peoples, encourages Indigenous community partnerships, is inclusive of Indigenous perspectives in all that we do.
- We encourage all qualified applicants to apply, however preference will be given to Canadian citizens and permanent residents of Canada._

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