Position Summary

The Hamilton Regional Laboratory Medicine Program (HRLMP) is seeking a Genome Specialist to manage, analyze, and interpret clinical genetic data. As a team member, you will assist in analyzing and interpreting clinical data derived from high throughput genotyping and sequencing platforms. You will work closely with members of the Hamilton Regional Genetics Program and as well as other key partners and collaborators.

Interpret and analyze genetic and genomic variants from next generation sequencing and SNP analyses, progressing from raw data to variant annotation and classification, including both somatic and germline testing using multiple molecular platforms and methodologie

Prepare draft clinical reports, in accordance with current nomenclature and guidelines for variant interpretation (e.g. ACMG, HGVS, ISCN) for review and reporting by Clinical Laboratory Scientist

Conduct comprehensive literature reviews, database searches, and bioinformatics analyses to evaluate the clinical significance and disease association of sequence, copy-number, structural, and epigenomic variants.

Keep abreast of new and emerging technologies and literature pertaining to high throughput (epi) genomic analysis, variant detection and variant interpretation, provide advice to laboratory leadership and implement adaptive changes to the pipeline as needed to ensure continuous optimization of data processing and quality

Provide technical guidance and support for systems used by laboratory scientists for variant visualization, annotation, filtering, review, and interpretation.

Collaborate with informatics team to maintain data storage systems for NGS-related data in accordance with applicable clinical diagnostic laboratory requirements.

Troubleshoot and resolve issues related to software used to detect and interpret clinical significance of sequence and copy number variants (e.g. Mutation Surveyor, NextGene ,Ion Reporter, Alamut, Gene Marker, Affymetrix GeneChip Command Console (AGCC) and Chromosome Analysis Suite (ChAS)).

Contribute to new test development, validation and implementation of new technologie

Contribute to existing laboratory quality management system and accreditation requirements to ensure quality and safety metrics are followed

Collaborate with the Hospital's HITS Department in the resolution of IT issues as required.

Participate in the education and training of CCMG Fellows, Michener Students and other learners in genomic analysis, variant interpretation, and related laboratory workflows.

Apply subject-matter expertise and laboratory experience to guide, mentor and support trainees and new staff.

Attend and contribute to staff meetings.

Schedule Work Hours

Monday to Friday, day

Qualifications

Essential:

Master's Degree or Ph.D. in molecular biology, genetics or a relevant field such as bioinformatics, computer science or mathematics, with applicable clinical genomics experience.

Experience working with next-generation sequencing data: ThermoFisher and Illumina base calling, sequencing quality control, sequence alignment, variant calling and annotation, RNA-sequencing analysis, germline and somatic mutational events, copy number variants etc.

Experience with relevant public databases (e.g., Variant databases, Gene Ontology, UCSC Genome Browser)

Excellent written and communication skills

Preferred:

Experience working with SNP-microarray analysi

Experience with epigenomic data analysi

Programming skills in at least one programming language such as Python, Perl, R, C++, MySQL, UNIX shell, Java, Matlab program

Experience developing NGS bioinformatics pipeline

Guidelines

Hamilton Health Sciences fosters a culture of patient and staff safety, whereby all employees are guided by our Mission, Vision, Values, and Values Based Code of Conduct. Hamilton Health Sciences is a teaching hospital and all staff and physicians are expected to support students and other learners.

To be considered for this opportunity applicants must apply during the posting period. All internal and external applicants may ONLY apply via the Careers website. This job posting is for an existing vacancy.

If this position is temporary, selection for this position will be as per the outlined Collective Agreements:

Article 30 (k), CUPE Collective Agreement

Article 10.7 (d), ONA Collective Agreement

Article 13.01 (b) (ii), OPSEU 273 Collective Agreement

Article 14.04, OPSEU 209 Collective Agreement

Article 2.07 and Article 13, PIPSC RT Collective Agreement