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 multidis...
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