Reporting to the Manager of the Molecular Diagnostic Laboratory, of the Department of Pathology and Laboratory Medicine, the Clinical Specialist will work as a Variant Scientist. The incumbent will be a key member of a clinical team of molecular biologists, medical geneticists, and bioinformaticians working together to analyze new and archival clinical cases based on our high-throughput sequencing assays.
The incumbent operates in three major areas: (1) Clinical testing: participating in the review of patient results from high-complexity tests such as Clinical Exome Sequencing and the Hematologic Malignancies Sequencing Panel; (2) Data curation and archiving: performing, reviewing, and organizing variant curation of current cases and archival cases; (3) Research and test development.
PhD in genetics or cancer-related fields; Human Genetics preferred. No additional licenses or certificates are required. Demonstrates a strong intuitive understanding of probability. Though laboratory techniques are not physically performed, you must understand the molecular biology of laboratory genetics and genomics (e.g. target capture/amplification and massively parallel sequencing). Excellent communication and writing skills required. Strong ability to collaborate with teams of clinicians, research scientists, and external collaborators required. Exhibits scientific creativity and routinely demonstrates independent thought. Computer fluency is required (e.g. MS Excel, IGV, UCSC/COSMIC genome browsers). Computer programming (e.g. R/SAS/Perl/Python), regex, database design, and/or bioinformatics experience would be an asset.
Employment/Position Type:Full Time
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