Scientist, Clinical Variant Annotation

The Ohio State University Wexner Medical Center; Columbus (OH); On-site; USD 112,000 - 140,000; Full time

Job summary

An established industry player is seeking a Clinical Variant Annotation Scientist to join their innovative team. This role involves performing genomic variant annotation and bioinformatics analysis within a CAP/CLIA laboratory environment. You will develop and utilize bioinformatics pipelines to annotate next-generation sequencing data, significantly impacting cancer diagnostics. If you have a passion for genetics and bioinformatics, and seek to contribute to groundbreaking research in a collaborative setting, this opportunity is perfect for you. Join a dedicated team committed to high-quality cancer care and research.

Qualifications

• Bachelor’s degree in relevant field required; graduate coursework preferred.
• Proficient in NGS techniques and variant analysis in clinical labs.

Responsibilities

• Develop bioinformatics pipelines for NGS data annotation.
• Provide technical support for new test development and variant curation.

Skills

NGS techniques

variant analysis

programming in R

programming in Python

Linux environments

SQL environments

Education

Bachelor's degree in Biology

Graduate coursework in Bioinformatics

Tools

Illumina platform

genomics software

Job description

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Job Title

Scientist, Clinical Variant Annotation

Department

James | James Molecular Lab

Scope Of Position

The James Molecular Pathology Laboratory performs clinical molecular diagnostics testing and uniquely spans across the research and clinical missions of The Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital (OSUCCC-James). The OSUCCC-James is committed to providing the community/region it serves with high quality services in cancer detection, diagnosis, treatment and rehabilitation as one of the nations’ 10 free standing “cancer-only” hospitals which, with 300+ beds, is one of the largest PPS-exempt hospitals in the USA (2500+ FTE’s). As an NCI designated Cancer program, the OSUCCC-James encompasses over 400,000 outpatient and clinic patient visits, more than 14,500 hospital admissions and over 10,000 surgeries per year. The CAP-, JCAHO- and CLIA-certified molecular laboratory is recognized as one of the top academic centers performing highly complex genetic testing utilizing advanced technology. It supports outreach testing programs, multi-institution cooperative efforts and educational rotations for medical students, residents, fellows and faculty from internal and external institutions. The Clinical Variant Annotation Scientist 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.

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.

Minimum Qualifications

For Hire:

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

• 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.

Career Roadmap

FUNCTION: Clinical Labs

SUB-FUNCTION: Bioinformatics

CAREER BAND: Individual Contributor - Specialized

CAREER LEVEL: S3

Additional Information

MINIMUM REQUIRED QUALIFICATIONS

Bachelor's Degree in Biology, Genetics, Statistics, Biostatistics, Bioinformatics, Computer Science or similar. 4 years of relevant experience required. 4-8 years of relevant experience preferred.

Location:

Polaris Pkwy, 2001 (0836)

Position Type

Regular

Scheduled Hours

40

Shift

Varying Shifts

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

Thank you for your interest in positions at The Ohio State University and Wexner Medical Center. Once you have applied, the most updated information on the status of your application can be found by visiting the Candidate Home section of this site. Please view your submitted applications by logging in and reviewing your status. For answers to additional questions please review the frequently asked questions.

The university is an equal opportunity employer, including veterans and disability.

Seniority level

• Seniority level

  Mid-Senior level

Employment type

• Employment type

  Full-time

Job function

• Job function

  Research, Analyst, and Information Technology

• Industries

  Hospitals and Health Care

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