UCSF is seeking a qualified candidate to serve as Bioinformatics Scientist / Programmer for the Clinical Cancer Genomics Laboratory (CCGL). In this role, this individual will be part of a team responsible for design, construction, and maintenance of a genomic analysis pipeline supporting the UCSF500 Cancer Gene Panel assay, a molecular test profiling DNA from tumor and normal tissue to identify mutations that may drive a patient’s cancer and aid in diagnosis and treatment. Our internally developed cloud-based genomic analysis pipeline detects single nucleotide variants, small and medium indels, structural rearrangements, copy number variants, and microsatellite instability, and communicates with sequencing core services, laboratory information management systems and clinical reporting software.
Under the general direction of the Associate Director of Informatics of the CCGL, the Bioinformatics Scientist / Programmer will design and develop new components for our pipeline to support new and enhanced clinical testing. New features slated for development include gene fusion detection via RNAseq and detection of mutational signatures. Other new software developed will provide support for automating aspects of sample analysis and error reporting and integration with other clinical systems. Additional responsibilities will include supporting the development of new target capture panels and test validation as well as quarterly data analysis to improve QC and support clinical annotation. In this role, the Bioinformatics Scientist / Programmer will interface with molecular pathologists, laboratory and administrative staff, medical researchers, technical teams for related clinical systems and data repositories, and research consortia.