| Description | General FunctionUse software and/or databases to gather, store, manipulate, and analyze clinical and research data. Design and implement bioinformatics tools and process analysis in accordance with defined clinical protocols used for genetic sequence, phenotype analysis, data mining or statistical modeling. Identify and resolve technical issues and propose upgrades to genomics analysis. Use basic skills and knowledge to accomplish goals. Consult with peers on projects to learn through experience and enhance patient care through accurate analysis. Work quickly and independently to meet deadlines and turnaround times. Reporting FunctionThis individual reports to the Manager of Clinical Informatics and Integration.. Essential Functions1. Process genomic samples according to validated assay protocols for Medical Director(s) analysis. Including sequence alignment, variant calling, variant annotation, and variant analysis. 2. Validate new genomic tests, bioinformatics software, data analysis processes and data visualization tools. 3. Participate in development and implementation of computational tools for, data mining, and data integration to support Next Generation Sequencing/Microarray/Genetic Analyses, Comparative Genomic Analysis and Data Presentation with limited guidance. 4. Improve informatics infrastructure. Work with the Clinical Informatics and Integration Team and the IT departments to identify and evaluate softare tools for analyzing and interpreting data more efficiently. Work to design data process flow and data presentation tools for analysis of genomic sequencing data. 5. Design and implement data analysis methodologies through hands-on programming. 6. Transition developed software and analysis into clinical pipeline. Other Functions · Other duties as assigned |
| Requirements | Job Qualifications Education/Credentials required· Bachelor’s degree in Bioinformatics, Computer Science, or relevant technical field Education/Credentials preferred· Master’s degree in Bioinformatics or Computer Science. Experience/Skills required· Advanced proficiency in the use of biological databases and on-line resources/tools · Five years of computational experience using Linux or Shell scripting · Five years of programming work experience using Perl, Python, Java or C++ · Five years of scientific programming experience or tool development experience in sequencing analysis or genotyping Experience/Skills preferred· Five years of experience post graduation in analysis of next generation sequencing data · Five years experience in development, optimization, and/or validation of test systems · Five years experience in data mining or machine learning · Five years of previous scientific programming or tool development experience in sequence analysis or genotyping Physical and other requirements· Ability to communicate effectively in both written and verbal English · Continual assessment of current scientific literature/public databases · Ability to work well with others · Regular and reliable attendance · Ability to work all required overtime |
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