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Genetic Analysis Specialist, Gapp

3 months ago


Halifax, Canada IWK Health Centre Full time

**Company** : IWK Health**:
**Req ID**:177595
**Department/Program**:Associated Research, Research Services
**Location**: Halifax

**Type of Employment**:Temporary Hourly FT long-assignment (100% FTE) for 1 year x 1 position(s)
**Start Date**: April 2024
**Union Status**: Research, Management/Non Union Bargaining Unit
**Compensation**: $38.3239**:

- **$46.5222 /hour
**Closing Date**: April 2, 2024 (Applications are accepted until 23:59 Atlantic Time)

IWK Health is a respected academic health sciences centre located in Halifax, Nova Scotia, providing tertiary and primary care for two million children, youth, adults and families each year across the Atlantic region. We have a team of approximately 4000 employees, physicians, volunteers and learners at sites across Nova Scotia. People build careers with IWK Health with our focus on training and mentorship opportunities. We recognize each other’s talent and celebrate our successes. We collaborate in modern facilities or virtually from home, align our work to our values, and enjoy access to enhanced benefits and wellness programs. We are proud to support our patients, families and communities and are grateful for the generous donor support we receive.

**The Opportunity**:
The Genetics Analysis specialist will work with the Clinical Genomics Division, within the Department of Pathology and Laboratory Medicine at IWK Health, on the Genome Canada Genomic Applications Partnership Program study “Implementation of Exomes in a Prenatal and Pediatric Setting”. The primary responsibilities will be to provide technical, analytic, and bioinformatic support related to analysis pipelines for human next generation sequencing (NGS) data, with a focus on variant detection in a wide variety of genetic disorders. If time permits, the genetics analysis specialist will also work with Lab Medical and Scientific staff developing additional bioinformatic technology for clinical implementation and assist with additional research projects.

Responsibilities include but are not limited to:
The Genetics Analysis specialist will:

- Work under the supervision of various Clinical Genomics Laboratory Medical and Scientific staff.
- Work collaboratively with Genetics technologists, MLTs, MLAs and laboratory-based Genetic counsellors.
- Keep excellent records of data and maintain up-to-date records of project progress.
- Assist with data analysis.
- Maintain laboratory internal databases of genetic variation and support clinical and scientific literature databases.
- Help create, manage, and extend analysis pipelines for human next generation sequencing (NGS) data, with a
- focus on variant detection in a wide variety of genetic disorders.
- Evaluation of available analysis programs and tools, design and implement Standard Operating Procedures
- (SOPs), protocols, and reports for the use of Next Generation Sequencing (NGS) in clinical testing.
- Analysis of NGS data, pipeline evaluation and assessment, as well as the use and maintenance of a robust
- provenance-tracking solution for NGS data (chain of custody for all analysis steps).
- Manage relevant computing resources, such as computing and data storage clusters, in partnership with the IWK
- Information Technology Group.
- Participate in regular meetings related to various aspects of exome validation and other relevant research
- activities.
- Prepare required study reports.
- Have user knowledge of ROMEO Portal
- Have certification in TCPS2 Module Course (Research Ethics)
- Assist with preparation of publications, research grants, ethics and biosafety submissions.

**Hours of Work**:
Monday to Friday, 37.5 hours week

**Your Qualifications**:

- A university degree in Medical Sciences, or advanced degree (MSc or PhD) in biomedical research
- A minimum of 2 years of experience in laboratory research is required.
- Previous experience working within a hospital setting is an asset.
- Experience with programming languages commonly used in bioinformatics (e.g. Python, R, or Perl) is an asset.
- Familiarity with bioinformatics tools and databases, such as BLAST, NCBI, UCSC Genome Browser, Ensembl,
- and Clinvar.
- Experience with NGS data analytics in cloud environments is an asset.
- Experience with collaborative development platforms, such as GitHub, Google Colab or GitLab is desirable.
- Exemplary interpersonal skills both verbally and in writing
- Confidence and interpersonal communication skill set necessary to establish new working relationships with
- various clinicians and teams.
- Ability to liaise and network with other health professionals within other provincial health jurisdictions.
- Superior organizational, problem solving and critical thinking and attention to detail skills, precision and
- dependability is an asset.
- Confident to assume independent work and to actively seek support when required.
- Organize and manage workload with accuracy.

Thank you for your interest in IWK Health.

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