Clinical Genomics Specialist
- IWK Health Centre
- Halifax, NS, Canada
- Job Type:
- PhD (Full Time)
- Degree Level Required:
- Apply Now
Clinical Genomics Specialist
The Clinical Genomics Division provides full-service integrated molecular and cytogenetic testing. In collaboration with the Maritime Medical Genetics Service and other clinical partners, the Division ensures timely and clinically-actionable results required for appropriate patient care. The Genomics Lab also fosters positive relationships in education and research. The Clinical Genomics service has built partnerships with many research groups and provides teaching opportunities for Dalhousie University medical school students, residents and fellows, as well as clinical placements for students in Genetic Technology training program.
The Clinical Genomics Specialist will 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.
Other roles will include:
- 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.
- The 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).
- Management of relevant computing resources, such as computing and data storage clusters, in partnership with the IWK Information Technology Group.
- The development of clinically usable reports in partnership with medical staff in the Genomics Laboratory to provide data for the generation of clinical reports, and engage in clinical/translational research at the Institution.
- A leadership role, supporting the Division with technical expertise and mentorship.
The successful candidate will act in accordance with the mission, values and goals of the Department of Pathology and Laboratory Medicine, IWK Health Centre and the Nova Scotia Health Authority.
Candidates will have a Ph.D. in Bioinformatics, Genomics, Genetics or related field. They must have at least 2 years post-doctoral experience, with developed comprehensive understanding and expertise in navigating multiple public data repositories, including data extraction (NCBI, UCSC, COSMIC, etc.); familiarity with commonly used algorithms for alignment and variant calling (SNV, InDel, CNV, Fusion, etc.); experience developing NGS bioinformatics pipelines/tools; experience in variant pathogenicity classification as correlated with patient clinical findings; and experience developing content for clinical and research applications utilizing NGS.
How to Apply
Interested applicants should submit a letter of interest, curriculum vitae and the names of three referees by email to: Jo-Ann K Brock, MD, PhD, FRCSC Division Head, Clinical Genomics Lab Department of Pathology and Lab Medicine IWK Health Centre, 5850 University Avenue, Halifax NS B3K 6R8 firstname.lastname@example.org