Bioinformatics Analyst

About the role

At Cincinnati Children's, bioinformatics plays a critical role in advancing precision medicine, accelerating scientific discovery, and improving outcomes for children and families. As a Bioinformatics Analyst I, you will contribute to the development, implementation, and continuous improvement of bioinformatics solutions that support both clinical and research initiatives. Working in close partnership with clinicians, researchers, laboratory professionals, pathologists, and technology teams, you will help curate, analyze, validate, and interpret complex biomedical and genomic data while supporting the development of next-generation sequencing (NGS) pipelines, computational workflows, and software solutions. Through collaboration, innovation, and data-driven problem solving, you will help optimize bioinformatics processes, support clinical accreditation requirements, and contribute to scientific publications and emerging technologies that drive the future of pediatric healthcare.

Responsibilities

• Informatics: Curates, annotates and organizes various types of biomedical data (e.g., genomic, clinical, imaging, sequencing) in various formats (e.g., flat files, relational and non-relational databases). Collects and records appropriate metadata. Ensures data are securely stored yet highly accessible to authorized users.
• Data Analysis: Executes pipelines for curating, processing and analyzing biomedical data of various types (e.g., genomic, clinical, imaging, sequencing). Utilizes existing software to support complex data management tasks (e.g., sequence alignment, variant calling, inter-sample comparison, patient matching/linkage). Utilizes web-based bioinformatics tools and public/proprietary relational databases. Follows standard operating procedures. Works in collaboration with both technology and scientific teams. Develops and maintains novel NGS data analysis algorithms and NGS bioinformatics pipelines. Performs comprehensive evaluation of open-source algorithms/tools for DNA and RNA sequence data analysis for building clinical bioinformatics pipeline. Performs comprehensive validation and documentation of bioinformatics pipelines and algorithms in compliance with clinical accreditation requirements.
• Requirements Gathering: Interfaces with clinicians/researchers to collect requirements of basic to moderate complexity including user workflows. Contributes to problem-solving and solution evaluation. Gathers, analyzes, and documents complex clinical and user requirements, functional requirements, and data specifications. Designs, writes and documents technical specifications to design or redesign complex bioinformatics workflows.
• Software Evaluation & Development: Contributes to the evaluation and development of software solutions to support basic to moderately complex data workflows. Under general supervision, assists with implementation and testing efforts. Effectively communicates the status of all efforts to necessary parties. Utilizes project and time management skills to complete projects within specific timeframes. Prepares timelines, project plans and flow charts for the development or enhancement of new and existing genomics applications. Works in conjunction with laboratory director, pathologists, laboratory professionals, and other scientific members to optimize and validate new analytical tools and processes. Collaborates with other software