BACKGROUND

RESPONSIBILITIES

• Contribute to the maintenance and development of bioinformatics tools and resources through a knowledge of internally developed systems, open-source programs, and commercial applications. Provide efficient data management support with a clinically compliant approach.
• Work with clinical team members to develop, implement and maintain functioning pipelines and applications upstream and downstream of clinical analysis, interpretation and reporting workflows. Support clinical end users (internally and externally) through troubleshooting and resolution of encountered issues with pipelines and applications.
• Maintain data management pipelines and analytic tools by staying current with evolving standards and algorithms, incorporating these into pipelines and clinical workflows as necessary.
• Perform and maintain data management processes for data file transfer and data formatting in support of clinical analysis and interpretation workflows and procedures.
• Ensure optimized performance of clinical pipelines, tools and applications to ensure clinical operations are not disrupted.
• In conjunction with clinical and IT team members, define and prioritize requirements for pipeline and application development which incorporate new technologies and tools.
• Implement, maintain and update internally generated, commercial and open-source software and databases required for clinical genomic data analysis and interpretation.
• Document all aspects of the bioinformatics environment for existing systems and newly implemented systems in a clinically compliant way.
• Ensure versioning through a source control system of all pipelines, configurations, algorithms, tools and applications used in clinical workflows.

REQUIREMENTS

• Minimum BS/MS in bioinformatics, biology, data science, or related field. MS preferred.
• Demonstrated prior experience in working with genomic data and bioinformatics tools and databases (HGMD, UCSC Genome Browser, IGV, OMIM). Experience in a clinical NGS environment is preferred.
• Experience with R and scripting ability in Python, Perl and/or other languages
• Collaborate with technical teams (internally and externally) in specifying requirements for tools to enhance workflow efficiency and robustness.
• Understanding of and familiarity with UNIX/LINUX environment
• Experience in genomic data management, quality assessment and visualization highly preferred.
• Experience in genomic data analysis preferred but not required.
• Experience with pipeline, workflow and/or software development preferred.
• Proven problem-solving skills and collaborative nature in fast-paced environment
• This position may require weekend or off-hours shift work to support uninterrupted clinical operations.

HOW TO APPLY