Bioinformatics and IT Specialist

Job Summary:

The Bioinformatics and Informatics Technical Specialist is dual-focus role responsible for the end-to-end processing of sequencing data, performing quality control (QC) on results, providing data and report support to external clients, and delivering essential daily IT support while contributing to long-term technology and software improvements across the laboratory. This role blends expertise in bioinformatics, data science, and software development to process, interpret, and visualize biological data, delivering actionable insights for clinicians and internal teams.

Essential Duties and Responsibilities:

• Execute and maintain bioinformatics pipelines to process and analyze targeted NGS data
• Familiarity with programming (R, Python, Linux/UNIX, Nextflow)
• Familiarity with HPC environments (SLURM) and/or Amazon Web Services EC2 and S3
• Monitor sequencing runs, retrieve raw data, perform QC checks, and manage report generation.
• Upload finalized reports to client portals and internal trackers.
• Maintain and update the internal sequencing log and delivery timelines.
• Manage non-standard client requests and customized delivery formats.
• Coordinate with the wet lab, Client Services, and R&D teams regarding run status, updates, and issue resolution.
• Maintain and update code documentation via GitHub repository and adhere to revision control best practices.
• Contribute to software improvements and implement optimizations across laboratory systems
• Provide technical support and troubleshooting for daily laboratory IT operations.
• Ensure compliance with data privacy regulations (e.g., HIPAA, GDPR) and follow best practices for reproducible research and version control.

Education and Experience:

• Master’s degree in computer science, Computational Biology, Data Science, Statistics or a related field. A Bachelor’s degree with significant, directly relevant experience may be considered.
• Demonstrable knowledge of best practices for code documentation and version control (GitHub).
• Competence in IT systems administration, troubleshooting, and providing technical support within a laboratory or scientific environment.
• Strong analytical, problem-solving, and organizational skills with the ability to manage competing priorities in a fast-paced environment.
• Excellent verbal and written communication skills for effective collaboration with interdisciplinary scientific and clinical teams.

Preferred Skills:

• Experience with advanced data visualization tools and techniques.
• Proficiency with Microsoft Office Suite, specifically Excel and Word.