Biomedical Informatics Consultant - James Molecular Pathology Laboratory

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Position Summary

The Clinical Variant Annotation Scientist focus will be to perform 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.

Job Requirements

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.

Experience

2 years of relevant experience required; Prior experience as a medical technologist; 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.

On going

Maintain certification by education credits; meets health surveillance requirements. Demonstrate competence in technical, interpersonal and cognitive skills required to meet essential job functions.

Additional Information

Location : Polaris Pkwy, 2001 (0836) Position Type : Regular Scheduled Hours : 40 Shift : Varying Shifts

Clinical Labs - Bioinformatics - Individual Contributor - Specialized - S3

Final candidates are subject to successful completion of a background check. A drug screen or physical may be required during the post offer process.

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Job Title : Biomedical Informatics Consultant - James Molecular Pathology Laboratory Department : James | James Molecular Lab

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