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Hamilton Health Sciences

Technical Specialist (Genome Specialist)

Hamilton, ON, Canada

Job type: Full-time
Apply by: Oct 5, 2026
Posting language: English
Posted: Sep 29, 2026

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Original job description

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 methodologies

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 Scientists

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 technologies

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.

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 analysis

Experience with epigenomic data analysis

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

Experience developing NGS bioinformatics pipelines

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More about this job

Responsibilities

The Genome Specialist will manage, analyze, and interpret clinical genetic data derived from high-throughput sequencing platforms to support diagnostic reporting. They will also collaborate with laboratory teams to optimize bioinformatics pipelines and provide technical guidance for clinical variant interpretation.

Requirements

Candidates must hold a Master’s degree or Ph.D. in molecular biology, genetics, or a related field with significant clinical genomics experience. Proficiency in next-generation sequencing data analysis and familiarity with relevant public databases and bioinformatics tools are essential.

Skills

Next-generation sequencing
Variant interpretation
Bioinformatics
Molecular biology
Genetics
Python
R
Data analysis
Quality management
Clinical reporting
SNP analysis
Epigenomics
Mutation surveyor
NextGene
Ion reporter
Alamut

Visa sponsorship

Not detected in the job text

Keywords

Genome Specialist
Next-generation sequencing
Bioinformatics
Molecular biology
Genetics
Variant annotation
Somatic testing
Germline testing
ACMG
HGVS
ISCN
Python
Perl
R
C++
MySQL
UNIX shell
Java
Matlab
Mutation Surveyor
NextGene
Ion Reporter
Alamut
Gene Marker
Affymetrix GeneChip
SNP-microarray
Epigenomic data
Clinical laboratory
Quality management
Data storage

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