Under the supervision of the Molecular Pathology Medical Director, the Bioinformatics Specialist is responsible for developing and maintaining genomic and biologic database information in support of the clinical diagnostic, therapeutic and prognostic testing requirements of the department. The Bioinformatics Specialist is responsible for using or writing software programs, developing statistical models to evaluate the reliability of data, mining and maintain the curated database used by other CellNetix physicians/scientists, clients and to create patient reports. The individual must be able to innovatively address and resolve difficult technical problems and be familiar with advanced molecular diagnostic testing techniques (Sanger, RT-PCR, pyrosequencing, microarray, NGS, etc.). Additional duties as assigned might include interpretation and reporting of results, quality control evaluation, training, special projects, equipment evaluation, coordination of department activities with the CellNetix IT department.
• Applies bioinformatics and molecular genetic computation techniques in collaboration with the physicians, molecular scientists and technologists in the Molecular Pathology department to validate gene sequence results and deliver reliable and accurately annotated mutation analysis reports with personalized treatment recommendations for clinical use by oncologists and pathologists.
• Help to develop and utilize programs to collect, store, manage, analyze and report biological sequencing data.
• Work with scientists and technicians to identify needs, test 3rd-party software, and develop new applications.
• Direct the work of technicians and information technology staff applying bioinformatics tools or applications in areas such as proteomics, transcriptomics, metabolomics, and clinical bioinformatics.
• Will be the expert user of software systems within the department and able within reasonable limits to modify and use databases, natural language search, curation and statistical tools thoroughly and competently. Acts as the department’s primary specialist in computer programs, statistical analysis, interfaces, curated report content and information systems with appropriate infrastructure, LIS reporting and interface support from the CellNetix IT department.
o Create or modify web-based bioinformatics tools.
o Create novel computational approaches and analytical tools as required by research goals.
o Develop new software applications or customize existing applications to meet specific scientific project needs.
o Design and apply bioinformatics algorithms including unsupervised and supervised machine learning, dynamic programming, or graphic algorithms.
o Compile data for use in activities such as gene expression profiling, genome annotation, and structural bioinformatics.
o Manipulate publicly accessible, commercial, or proprietary genomic, proteomic, or post-genomic databases.
• Communicate research results through conference presentations, scientific publications, or project reports.
• Analyze large molecular datasets such as raw microarray data, genomic sequence data, and proteomics data for clinical purposes.