Bioinformatics Analyst

Cincinnati Children's Hospital Medical Center • Cincinnati, OH

59d

About The Position

At Cincinnati Children's Hospital Medical Center, we are committed to advancing precision medicine and delivering timely, accurate genetic and genomic insights that directly impact patient care. As genetic and genomic testing program rapidly expands in our Genetic and Genomic Diagnostic Laboratory (GGDL), the demand for high-quality, efficient clinical bioinformation has never been greater. We are seeking a Bioinformatics Analyst to join GGDL to support our most complex and high-revenue genetic and genomic tests. Your work will play a crucial role in optimizing workflows, supporting lab directors, and implementing innovative tools that enhance both the speed and quality of genetic and genomic diagnosis. By joining us, you'll directly contribute to improving patient outcomes and strengthening our competitiveness in this rapidly evolving field.

Requirements

• Bachelor's degree in a related field required
• 0+ years of work experience in a related job discipline (entry-level applicants with relevant training are encouraged to apply)

Nice To Haves

• Education: B.S. or M.S. in Bioinformatics, Computational Biology, Biomedical Informatics, Data Science, Systems Biology, or a related field.
• Programming & Systems: Proficiency in Linux/Unix command line and scripting languages (Python, Bash, or R); experience with High Performance Computing clusters and version control platforms (Bitbucket, Git, GitHub).
• Professional Skills: Detail-oriented with excellent documentation and communication abilities.
• Bioinformatics Analysis: Hands-on experience analyzing NGS and microarray data; familiarity with bioinformatics tools such as DRAGEN, BWA, GATK, samtools, IGV, and Manta.
• Data & Database Management: Experience with database table design, SQL, and bioinformatics databases such as ClinVar, ClinGene, gnomAD, and OMIM.
• Clinical & Laboratory Experience: Familiarity with clinical lab testing workflows and experience working in CAP-certified environments; understanding of molecular diagnostic processes and clinical time constraints.
• Software & Technology: Experience with workflow management systems (Nextflow, Snakemake, containerization), web development (PHP, JavaScript/jQuery/AJAX), and data integration using Mirth Connect.
• Advanced Computing: Experience applying cloud computing and machine learning techniques to biomedical data.

Responsibilities

• Data Processing and Analysis: Execute and monitor data analysis pipelines (e.g., sequence alignment, variant calling, sample identity) for laboratory generated data (e.g., NGS, microarray)
• Work with laboratory and clinical teams (e.g., lab directors, wet-lab technicians, genetic counselors, genomic scientists, and clinicians) to verify results consistent with lab SOPs and meet turnaround time requirements
• Monitor bioinformatics work queues to ensure cases are processed and moved on in a timely fashion
• Responsible for identifying and resolving testing discrepancies and ensuring timely handling of urgent clinical laboratory requests
• Support quality control (QC) of laboratory generated data and ensure accuracy and completeness
• Ensure data are securely stored yet highly accessible to authorized users
• Analysis Pipeline and Workflow Management Maintain and troubleshoot existing bioinformatics workflows
• Contribute to laboratory documentation (e.g., test validation reports, change logs) to meeting clinical regulatory standards (e.g., CAP)
• Maintain accurate records of analyses, software versions, and databases used
• Contribute to the evaluation and development of new software solutions to support lab testing and improve workflow performance
• Software Evaluation & Tool Development Work with senior clinical bioinformaticians to support the development, validation and deployment of analysis pipelines for new clinical lab tests
• Develop new applications as clinical testing modules for in-house Laboratory Management System
• Utilize project and time management skills to complete projects within specific timeframes
• Utilize version control system for all code changes and adhere to strict deployment guidelines
• Collaboration and Communication: Interface with laboratory and clinical teams to collect requirements of basic to moderate complexity, including user workflows
• Work closely with other teams (e.g., IT staff) outside of laboratory for addressing data analysis issues
• Communicate with third party software and platform companies (Illumina, Fabric Enterprise, Bionano, SOPHiA Genetics, etc) to ensure workflow and pipeline updates, bug fixes, and processing changes are reviewed and implemented properly
• Publication: Contribute to analysis reports and figures for publications

Benefits

• Medical coverage starting day one of employment. View employee benefits here.
• Competitive retirement plans
• Tuition reimbursement for continuing education
• Expansive employee discount programs through our many community partners
• Shift Differential, Weekend Differential, and Weekend Option Pay Programs for qualified positions
• Support through Employee Resource Groups such as African American Professionals Advisory Council, Asian Cultural and Professional Group, EQUAL - LGBTQA Resource Group, Juntos - Hispanic/Latin Resource Group, Veterans and Military Family Advocacy Network, and Young Professionals (YP) Resource Group
• Physical and mental health wellness programs
• Relocation assistance available for qualified positions

What This Job Offers

• Job Type: Full-time
• Career Level: Entry Level
• Industry: Hospitals
• Number of Employees: 5,001-10,000 employees