Genomics Review Analyst/Scientist (FT, 40 Hours) at BioReference Labs in Elmwood Park, New Jersey

Job Description:

This is an exciting time to join our dynamic organization! BioReference, an OPKO Health company, is the largest full service specialty laboratory in the United States that gives healthcare providers and patients the power to make confident healthcare decisions. With a focus on oncology, urology and women's health, BioReference offers comprehensive test solutions and unparalleled expertise based on a 40 year legacy of proven science and exceptional service. Join our team and become part of the journey in making our patients and customers the highest priority.

POSITION SUMMARY:

Under the General supervision of a Supervisor, the Genomics Review Analyst II uses programs to interpret clinical nucleotide variation data.

SCHEDULE:

Monday - Friday: 8:00AM - 4:30PM

PRINCIPAL JOB DUTIES

Duties may include but are not necessarily limited to the following:

• Work with different programs to analyze genome sequencing data with attention to details (IGV, Sequencher, Mutation Surveyor)

• Understand clinical significance of variant for reporting

• Coordinate with the team to ensure cases being reported out in a timely matter

• Troubleshoot and resolve issues related to data analysis

• Document and write SOP for procedures

• Other duties as assigned

• Master’s degree in Molecular Biology, Biochemistry, Genetics or related filed or Bachelor’s degree in Molecular Biology, Biochemistry, Genetics or related field

• Experience in genome sequencing data analysis

• Experience with Next Generation sequencing analysis

• Knowledge in Human Genetics

• Familiarity with human mutation databases, genome browsers and HGVS nomenclature

• Attention to details, good communication skills, efficiency, adaptable, ability to multi-task and perform well under pressure

• Assist laboratory directors in preparing reports

• Maintain and improve functionality of genomic reporting tool.

• Investigating the clinical significance of gene variants found in sequencing-based assay.

• Assist laboratory directors in designing clinical testing pipeline

• Prepare variant assessment summaries; maintain an internal variant database for different disease/assay areas for the curation of variants periodically. Such clinical interpretation is a clinical components for reporting of molecular genetic testing results

• Update NCCN guideline and reporting components weekly basis.

• Update Tumor mutation burden statistics and reporting components quarterly basis.