BASIC FUNCTION AND RESPONSIBILITY
Bioinformatics
- Conducts and coordinates the analysis and implementation of computer-based information systems to meet the division of Diagnostic Genetics and Genomics (DGG) needs.
- Analyze large and complex biological, clinical, and/or `omics datasets using reproducible analysis approaches (e.g. analysis pipelines).
- Implement best practices to build and continually improve the sections computational bioinformatics capabilities and workflows.
- Prepare data as required for clinical patient reports or publications under the direction of laboratory leadership and contribute advanced data analysis required for clinical trial cohorts.
- Participate in the operational deployment and maintenance of Next Generation Sequencing (NGS) analysis pipelines for the division.
- Support analysis pipeline implementation analyzers and assays, including writing and editing procedures.
- Work with HITS and DGG engineering colleagues to ensure NGS bioinformatics pipelines adhere to all pertinent informatics security protocols.
- Work with DGG informatics leadership to gather requirements for test and pipeline updates with the goal of increasing the efficiency, utility, and warranty of testing.
- Perform ad-hoc bioinformatics analyses to evaluate performance of various methodological and software updates.
Quality Assurance, Quality Control, and Compliance
- Responsible for monitoring bioinformatics platforms/pipelines to ensure that acceptable levels of analytic performance are maintained.
- Establish/maintain/extend best practices for reproducible bioinformatics analysis and general-use data pipelines.
- Assure that all remedial actions are taken, or appropriate escalation is initiated, when test systems deviate from established performance specifications.
- Participate in monitoring the Quality Assurance Program.
- Assists with compliance of regulatory agency (i.e., CLIA, CAP) rules and regulations.
Management
- Collaborate with division colleagues to identify areas for operational improvement. Work with DGG leadership to recommend and plan future change.
- Work with DGG leadership to identify achievable goals and objectives for the section.
- Take an active part in identifying software tools that may reduce operational friction and/or enhance assay performance.
- Keep lab manager and division directors informed of problems or changes in procedures that impact the section or shift.
Operational oversight:
- Personnel
- New personnel
- Participate in interviews.
Training, Competency, and Education
- Fulfill departmental continuing education requirement.
- May teach bioinformatics skills as appropriate.
- Involved with Staff engagement activities and surveys to provide an environment which motivates and enriches staff.
Departmental Responsibilities
- Serve as technical resource person for staff, pathology operations, Mlab clients and other outside institutions.
- Working knowledge of the departmental document control system, laboratory information systems, and other business systems.
Other duties as assigned.