This position provides a unique opportunity to develop and maintain the bioinformatics solutions for the Clinical Genomics Laboratory. The successful candidate will also be involved in the analysis of clinical Next-Generation Sequencing data, including gene panels and whole exome sequencing data. This position receives supervision of completed work activities from the Director of Clinical Genomics.
- Family-Centered care that focuses on the need of the child first and values the family as an important member of the care team
- Excellence in clinical care, service and communication
- Collaborative within our institution and with others who share our mission and goals
- Leadership that set the standard for pediatric health care today and innovations of the future
- Accountability to our patients, community and each other for providing the best in the most cost-effective way.
- Processes clinical genomic data according to validated bioinformatics protocols.
- Designs, develops, implements and maintains an automated bioinformatics infrastructure for clinical genomic data analysis.
- Writes and maintains standard operating procedures to describe bioinformatics workflow.
- Performs and evaluates appropriate Quality Control measures.
- Closely works with the Director and other laboratory staff to analyze genomic tests validation experiments.
- Participates in development and implementation of computational tools and databases required for clinical genomic service.
- Performs miscellaneous job related duties as requested.