Summary of Duties
The Genome Analyst in Molecular Diagnostics will:
- Analyze NGS data from somatic and germline panels to identify, annotate, and classify genetic variants using established guidelines (e.g., ACMG/AMP), review of scientific literature, public databases (e.g., ClinVar, gnomAD, COSMIC, etc.), and internal resources to assess variant pathogenicity and clinical significance.
- Maintain in-house NGS and variant databases
- Collaborate with multidisciplinary teams to integrate genomic findings into electronic medical records locally and provincially and support clinically-relevant reporting.
- Participate in assay validation, troubleshooting, and continuous improvement of genomic testing processes in an accredited laboratory environment. Assist in the adoption of genome-wide sequencing and other future technologies at Sunnybrook.
- Participate in teaching of students, medical technologists, residents and fellows
- Participate in multidisciplinary tumor board to effectively communicate genomic findings to the clinical team
- Contribute to research initiatives, including searching NGS database, genotype-phenotype correlations and publication of findings.
Qualifications/Skills
- A Masters or Ph.D. degree in molecular, human genetics or related discipline, such as cancer-related fields (e.g. cancer cell biology, cellular and molecular pathology, molecular cancer biology, molecular and medical pharmacology) or bioinformatics / computational biology
- Background and expertise in bioinformatics will be an asset, but not required. Computer programming and database design experience is desirable.
- Current knowledge and experience with NGS analysis
- Knowledge and experience with molecular genetic variant assessment techniques
- Proficiency with IGV and UCSC genome browsers, knowledge of an experience with the use of genetic databases / resources and software (e.g. Alamut, COSMIC)
- Prior working experiences in clinical genomic laboratory
- Excellent communication skills (writing and presentation)
