Clinical Variant Scientist (Part-time) - Neurology

Scheduled Hours20

Position SummaryThis position will support ongoing efforts to increase the genetic diagnosis of limb girdle muscular dystrophy (LGMD) by improving the interpretation of genetic sequence variants in LGMD genes.

In close collaboration with the Clinical Genome Resource (ClinGen) LGMD Variant Curation Expert Panel (VCEP) directed by Dr. C. Chris Weihl, the primary responsibility of this role involves assessing the pathogenicity of sequence variants in genes associated with autosomal recessive limb girdle muscular dystrophy, with a particular focus on variants in the DYSF gene. This individual will be expected to work largely independently with the supervision and support of an experienced variant scientist but will also have opportunities to work as part of a team with other variant curators. They will be expected to interact with members of the expert panel and to participate in video conference calls to discuss variant curations as needed. Opportunities to contribute to data analysis, scientific presentations and manuscripts, refining of variant curation rules, and mentoring of volunteer curators will be provided.

Successful job performance will require learning and implementing the curation framework and protocols developed by ClinGen.

Job Description

Primary Duties & Responsibilities:

• Analyze, assess, and interpret genetic variation identified via clinical genomic testing workflows (targeted and comprehensive genomic testing).
• Analyze and integrate complex information from multiple sources to determine applicability of identified genetic variation to clinical care.
• Interpret genetic variation in accordance with up-to-date professional society guidelines.
• Assess quality control metrics as they relate to next generation sequencing and variant interpretation.
• Aid clinical staff, residents, and fellows with conducting variant interpretation.
• Develop, implement, and evaluate information, tools, and processes to assist clinical faculty/staff with clinical genomic testing, variant analysis/interpretation, and reporting.
• Work with clinical genomics test development, improvement, optimization, validation, and assurance of regulatory compliance.
• Aid with maintaining standard operating procedures for clinical genomic workflows.
• Support clinical and research faculty/staff with translational research projects.
• Gathering of relevant evidence from multiple sources, including the primary literature, databases, and clinic sources.
• Clear communication with LGMD experts and stakeholders regarding variant interpretation.

Working Conditions:

It is preferred that the incumbent will work on-site at the Washington University School of Medicine; however, individuals who wish to work off-site, remotely, will certainly be considered.

The above statements are intended to describe the general nature and level of work performed by people assigned to this classification. They are not intended to be construed as an exhaustive list of all job duties performed by the personnel so classified. Management reserves the right to revise or amend duties at any time.

Required Qualifications

Education:

Master's degree

Certifications:

No specific certification is required for this position.

Work Experience:

Relevant Experience (3 Years)

Skills:

Not Applicable

Driver's License:

A driver's license is not required for this position.

More About This JobWashington University seeks highly motivated individuals who are able to perform duties in a manner consistent with our core mission and guiding principles.

Preferred Qualifications

Education:

Ph.D. - Doctor of Philosophy

Certifications:

No additional certification beyond what is stated in the Required Qualifications section.

Work Experience:

No additional work experience beyond what is stated in the Required Qualifications section.

Skills:

Analytical Processes, Analytical Thinking, Biology, Clinical Databases, Clinical Laboratory Operations, Communication, Data Security, Deadline Management, Detail-Oriented, Genetic Research, Group Problem Solving, Integration Management, Microsoft Office, Next Generation Sequencing (NGS), Next Generation Sequencing Data Analysis, Organizing, Prioritization, Process Optimization, Scientific Literature, Stress Management, Team Collaboration, Working Independently

GradeC14

Salary Range$74,900.00 - $116,000.00 / Annually

The salary range reflects base salaries paid for positions in a given job grade across the University. Individual rates within the range will be determined by factors including one's qualifications and performance, equity with others in the department, market rates for positions within the same grade and department budget.

Questions

For frequently asked questions about the application process, please refer to our External Applicant FAQ.

Accommodation

If you are unable to use our online application system and would like an accommodation, please email CandidateQuestions@wustl.edu or call the dedicated accommodation inquiry number at 314-935-1149 and leave a voicemail with the nature of your request.

All qualified individuals must be able to perform the essential functions of the position satisfactorily and, if requested, reasonable accommodations will be made to enable employees with disabilities to perform the essential functions of their job, absent undue hardship.

Pre-Employment ScreeningAll external candidates receiving an offer for employment will be required to submit to pre-employment screening for this position. The screenings will include criminal background check and, as applicable for the position, other background checks, drug screen, an employment and education or licensure/certification verification, physical examination, certain vaccinations and/or governmental registry checks. All offers are contingent upon successful completion of required screening.

Benefits StatementWashington University in St. Louis is committed to providing a comprehensive and competitive benefits package to our employees. Benefits eligibility is subject to employment status, full-time equivalent (FTE) workload, and weekly standard hours. Please visit our website at https://hr.wustl.edu/benefits/ to view a summary of benefits.

EEO/AA Statement Washington University in St. Louis is committed to the principles and practices of equal employment opportunity and especially encourages applications by those from underrepresented groups. It is the University’s policy to provide equal opportunity and access to persons in all job titles without regard to race, ethnicity, color, national origin, age, religion, sex, sexual orientation, gender identity or expression, disability, protected veteran status, or genetic information.

Diversity StatementWashington University is dedicated to building a diverse community of individuals who are committed to contributing to an inclusive environment – fostering respect for all and welcoming individuals from diverse backgrounds, experiences and perspectives. Individuals with a commitment to these values are encouraged to apply. Apply