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)