Biomedical Informatics Cnst

Job ID: 425817
Job date: 2017-02-21
End Date:

Company : Ohio State University Medical Center 

Country :

Role : Technician 


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Job Description:
The position will perform genomic variant annotation and bioinformatics analysis for clinical testing. Primary responsibilities will include the development and use of bioinformatics pipelines to provide annotation of next-generation sequencing (NGS) data in a CAP/CLIA laboratory environment. Secondary responsibilities will include providing bioinformatics and technical support for new test development and helping to define and improve variant curation data models and the scoring and reporting process. The laboratory is regularly staffed five days a week (Monday through Friday) with weekend hours as needed.

Responsible for performing genomic variant annotation for clinical testing. Primary responsibilities will include the development and use of bioinformatics pipelines to provide annotation of next-generation sequencing (NGS) data in a CAP/CLIA laboratory environment. Assists in the analysis, design, testing and implementation of clinical information systems and solutions. Conducts assessments of the clinical environment and identifies implications for system implementations, and may act as a facilitator for those changes in the clinical environment. Secondary responsibilities will include providing bioinformatics and technical support for new test development and helping to define and improve variant curation data models and the scoring and reporting process. Administrative duties include: technical procedure writing and development of training materials for technologists and residents and fellows, keeping current with journal reviews that pertain to testing performed in the laboratory. This individual will maintain databases and other tools for record keeping and documentation in the laboratory ensuring laboratory inspection preparedness / readiness.

Education and experience:

Bachelor's degree in biology, genetics, statistics, biostatistics, bioinformatics, computer science, or similar; graduate level coursework in computer science and bioinformatics preferred. Must be proficient in NGS techniques and variant analysis in a CAP/CLIA clinical or core laboratory. Prior experience as a medical technologist is highly desired. Programming skills in R, Python, Perl, BASH or similar. Experience/coursework in Linux and SQL environments. Familiarity with the Illumina platform and commonly used genomics software.

This position will involve bioinformatics analysis of genomics cases in the clinical molecular laboratory including close daily coordination with the pathologists/directors and the molecular technologist. Prior experience with the analysis of complex genetic data, in the research or clinical settings, is required. Experience with scripting in R or Python or experience with genomic analysis software is preferred.


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Additional Info:
The James Molecular Pathology Lab performs molecular testing for the James Cancer Hospital and OSUWMC. We are recognized as one of the top academic molecular laboratories performing complex genetic testing.

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