Schedule :
Monday - Friday (40 hrs/wk)
8:00 AM - 5:00 PM

On-site OR remote work available

Department: Genomics Analysis - 396

Primary Purpose :

The Clinical Variant Scientist is responsible for assessing the clinical significance of sequence variants obtained from next generation and Sanger sequencing data, and composes drafts of the test interpretations. This position requires that roughly 90% of time is spent on analysis of clinical cases and 10% of time spent on other duties. This position demands high caliber, attentive to detail, and focused individuals.

About ARUP :

ARUP Laboratories is a national clinical and anatomic pathology reference laboratory and an enterprise of the University of Utah and its Department of Pathology. Based in Salt Lake City, Utah.

ARUP proudly hires top talent to create a work environment of diversity, professional growth and continuous development. Our workforce is committed to the important service we provide to over one million patients each month. We always strive for excellence and have a strong desire to have involvement with the advances in medicine and the role laboratory services plays within each patient’s life. We never forget that there is a patient behind every specimen we receive.

We are looking for individuals who want to contribute to ARUP's culture of accountability, integrity, service, and excellence. Consider joining our dynamic team."

Essential Functions :

Collects and integrates data from multiple sources including clinical history, and interpreting the information within the context of cancer biology, heritable disorders, and potential impact on clinical care.

Assist the medical directors in variant classification using standard nomenclature and classification guidelines proposed by authoritative groups (e.g. American College of Medical Genetics & Genomics), as well as drafting test interpretations for review by medical directors.

Access and interpret information from external databases including, but not limited to: 1000 Genomes Project, ESP6500, ExAC, ClinVar, HGMD, LOVD, UCSC Genome Browser, Ensembl Genome Browser, INSIGHT, and COSMIC.

Interpret output from prediction software such as Polyphen-2, SIFT, Mutation Taster, ALAMUT, and other applicable tools.

Research and determine clinical significance of variants based on literature, external databases (including ones listed above) and prediction software (including ones listed above), and annotate variants in the HGVS nomenclature. Ability to understand basic concepts in protein structure and function, splicing, and gene regulation, and how these relate to the observed sequence variants in a given specimen.

Understand experimental methods, data analysis methods and inferences that can be applied to both single-gene experimentation and high-throughput analyses.

Coordinate data produced from clinical lab testing.

Perform data entry with high accuracy and must have the ability to recognize inconsistencies and initiate resolution.

Assess the plausibility of laboratory results through correlation of data with clinical symptoms.

Maintain continual compliance with policies, procedures, and record keeping necessary to meet the standards of regulatory agencies.

Accept, resolve, and assist in the resolution of problems.

Performs assessment of peers performing non-waived testing as a Qualified Observer after two years’ experience.

Other duties as assigned.

Physical and Other Requirements :

Stooping: Bending body downward and forward by bending spine at the waist.

Reaching: Extending hand(s) and arm(s) in any direction.

Mobility: The person in this position needs to occasionally move between work sites and inside the office to access file cabinets, office machinery, etc.

Communicate: Frequently and effectively communicates with others.

PPE: Biohazard laboratory environment that requires use of personal protective equipment in accordance with CDC and OSHA regulations and company policies.

ARUP Policies and Procedures: To conduct self in compliance with all ARUP Policies and Procedures.

Sedentary Work: Exerting up to 10 pounds of force occasionally and/or negligible amount of force frequently or constantly to lift, carry, push, pull or otherwise move objects.

Fine Motor Control: Picking, pinching, typing or otherwise working, primarily with fingers rather than with the whole hand as in handling.

Vision: Having close, far, and peripheral visual acuity to perform a variety of tasks such as make general observations of depth and distance.

Color Vision: Perception of and ability to distinguish colors.

Qualifications

Education

Required

Master's Degree

Preferred

PhD

Experience

Required

Preferred

Experience with online genomic databases and genomic annotation

Experience with high throughput and Sanger sequencing data

Postdoctoral experience in human genetics, cancer biology or genomic analysis

Equal Opportunity Employer/Protected Veterans/Individuals with Disabilities

The contractor will not discharge or in any other manner discriminate against employees or applicants because they have inquired about, discussed, or disclosed their own pay or the pay of another employee or applicant. However, employees who have access to the compensation information of other employees or applicants as a part of their essential job functions cannot disclose the pay of other employees or applicants to individuals who do not otherwise have access to compensation information, unless the disclosure is (a) in response to a formal complaint or charge, (b) in furtherance of an investigation, proceeding, hearing, or action, including an investigation conducted by the employer, or (c) consistent with the contractor’s legal duty to furnish information. 41 CFR 60-1.35(c)