Generate & review
Whole-exome and targeted-panel workflows, with attention to sequence quality and the regions represented in the data.
Reading beyond the variant list.
At RMI, my responsibilities included laboratory workflows, sequencing-data analysis, germline and somatic variant review, and clinician-facing reporting. I used reference databases and published literature to place sequence findings in their biological and clinical context.
The work also involved maintaining SOPs and quality records, and training colleagues in sequencing and analysis. This experience informs how I approach genomic evidence today: sequence quality, the question being asked and the limits of interpretation need to remain visible throughout an analysis.
Interpret variation
Germline and somatic variant review, drawing on reference databases, literature evidence and the clinical question.
Document & communicate
Clinician-facing reporting, quality records and clear documentation of findings and their limitations.