The Director of Bioinformatics for the Stanford Clinical Genomics Service will oversee a team of bioinformaticians responsible for: 1) laboratory validation studies of the bioinformatics pipeline as required by the College of American Pathologists and other regulatory agencies, 2) data analysis of Stanford Clinical Genomics Service (SCGS) cases, and 3) selection of algorithmic approaches to iteratively improve the bioinformatics pipeline. The SCGS analyzes genome sequencing and other sequencing and array-based data in an attempt to determine the molecular etiology in patients with unexplained heritable disease. With the Co-Directors of the SCGS, this individual will develop the vision and strategy of the SCGS. This individual will work closely with the Stanford Health Care IT (SHC IT) team to enable delivery of an enterprise-level genomic analysis platform. This platform includes the hardware and software infrastructure for large-scale clinical data processing. Software components include the Next Generation Sequence (NGS) data analysis pipeline; variant filtering, prioritization, and reporting support tools; relational variant databases. In addition, the Director of Bioinformatics for the Stanford Clinical Genomics Service will be responsible for implementing a bioinformatics quality management program and interfacing with various teams within the SCGS, SHC IT, and Stanford Children’s Health IT.
- Serve as a single point of contact for bioinformatics requirements for SCGS.
- Responsible for defining, developing, and refining algorithmic approaches used in the bioinformatics pipeline.
- Work with SHC IT and third-parties during the development of the analysis pipeline to ensure that the pipeline meets enterprise-level requirements of SHC IT and that the cloud-based infrastructure can support the various components of the analysis pipeline. Ensure that the bioinformatics strategy is developed with consideration to program requirements, financial targets and evolving landscape of computational and regulatory aspects.
- Coordinate with SHC IT and Stanford Children’s Health IT teams to ensure those respective teams can implement Electronic Medical Record (EMR) integration, including order entry, utilization review and result reporting.
- Coordinate with SHC IT and Stanford Clinical Laboratories to ensure integration with the Laboratory Information Management System and other laboratory workflows and systems.
- Foster a collaborative culture between informatics groups in SHC, Stanford Children’s Health, School of Medicine, and greater Stanford University community.
- Ensure ongoing R&D of “best-in-class” diagnostic pipeline to keep SHC at the leading edge of diagnostics by leveraging expertise of Stanford University and Silicon Valley resources.
- Hire and manage a team of 4-6 bioinformaticians, who will be responsible for selection of algorithms to be used in the bioinformatics pipeline, validation studies, and ongoing analyses required by the SCGS. Provide technical leadership and supervision to the team. Ensure that the team is properly staffed and trained to meet its commitments.
- Maintain expertise in “best-practices” in bioinformatics and large-scale informatics methods.
- Work with regulatory bodies and standards organizations to help define standards for NGS data in the clinical lab environment.
- Work with senior management to ensure strategic plans align with the corporate goals and long-term plans. Responsible for meeting project milestones, for the quality of the scientific/engineering approach and for compliance with company processes.
- Be recognized expert both internally and externally. With approval of senior management, may present at scientific and professional meetings.
- Perform other related duties as assigned.
All qualified applicants will receive consideration for employment without regard to race, sex, color, religion, national origin, protected veteran status or on the basis of disability.