Use 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 software analysis. Use high level of skill and extensive experience to accomplish goals. . Work under minimal supervision on complex projects and may assist less experienced peers. Wide latitude for independent judgment.
This individual reports to the Manager of Clinical Informatics and Integration..
- Process genomic samples according to validated assay protocols for Medical Director(s) analysis. Including sequence alignment, variant calling, variant annotation, and variant analysis.
- Validate new genomic tests, bioinformatics software, data analysis processes and data visualization tools.
- 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.Improve informatics infrastructure. Work with the Clinical Informatics and Integration Team and the IT departments to identify and evaluate software tools for analyzing and interpreting data more efficiently. Work to design data process flow and data presentation tools for analysis of genomic sequencing data.
- Evaluate external software packages and integrate into in house environment.
- Design and implement data analysis methodologies through hands-on programming.
- Transition developed software and analysis into clinical pipeline.
- Provide consultative informatics to clinical and research staff, pathology residents and others.
- Other duties as assigned
- Master’s degree in Bioinformatics, Computer Science, or relevant technical field
- PhD in Bioinformatics Computer Science, or relevant technical field.
- Expert proficiency in the use of biological databases and on-line resources/tools
- Eight years of computational experience using Linux or Shell scripting
- Eight years of programming work experience using Perl, Python, Java or C++
- Eight years of scientific programming experience or tool development experience in sequencing analysis or genotyping
- Eight years of experience post-graduation in analysis of next generation sequencing data
- Eight years’ experience in development, optimization, and/or validation of test systems
- Eight years’ experience in data mining or machine learning
- Eight 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