What are the responsibilities and job description for the Bioinformatics Analyst position at Cincinnati Children's?
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.
Job Responsibilities
Data Processing and Analysis:
Kasota - 3244 Burnet
Schedule
Full time
Shift
Day (United States of America)
Department
Human Genetics
Employee Status
Regular
FTE
1
Weekly Hours
40
Market Leading Benefits Including*:
At Cincinnati Children’s, we come to work with one goal: to make children’s health better. We believe in a holistic team approach, both in caring for patients and their families, and in advancing science and discovery. We strive to do better and find energy and inspiration in our shared purpose. If you want to be the best you can be, you can do it at Cincinnati Children’s.
Cincinnati Children's Is
Comprehensive Job Description Provided Upon Request.
Cincinnati Children’s is proud to be an Equal Opportunity Employer committed to creating an environment of dignity and respect for all our employees, patients, and families. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, age, genetic information, national origin, sexual orientation, gender identity, disability or protected veteran status. EEO/Veteran/Disability
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.
Job 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
- 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
- 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
- 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
- Contribute to analysis reports and figures for publications
- 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)
- 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.
Kasota - 3244 Burnet
Schedule
Full time
Shift
Day (United States of America)
Department
Human Genetics
Employee Status
Regular
FTE
1
Weekly Hours
40
Market Leading Benefits Including*:
- 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
- Benefits may vary based on FTE Status and Position Type
At Cincinnati Children’s, we come to work with one goal: to make children’s health better. We believe in a holistic team approach, both in caring for patients and their families, and in advancing science and discovery. We strive to do better and find energy and inspiration in our shared purpose. If you want to be the best you can be, you can do it at Cincinnati Children’s.
Cincinnati Children's Is
- Recognized by U.S. News & World Report as a top 10 best Children's Hospitals in the nation for more than 15 years
- Consistently among the top 3 Children's Hospitals for National Institutes of Health (NIH) Funding
- Recognized as one of America’s Best Large Employers (2025), America’s Best Employers for New Grads (2025)
- One of the nation's America’s Most Innovative Companies as noted by Fortune
- Consistently certified as great place to work
- A Leading Disability Employer as noted by the National Organization on Disability
- Magnet® designated for the fourth consecutive time by the American Nurses Credentialing Center (ANCC)
Comprehensive Job Description Provided Upon Request.
Cincinnati Children’s is proud to be an Equal Opportunity Employer committed to creating an environment of dignity and respect for all our employees, patients, and families. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, age, genetic information, national origin, sexual orientation, gender identity, disability or protected veteran status. EEO/Veteran/Disability