Scheduled Hours

40

Position Summary

This 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.

A primary responsibility of this role is to lead the curation efforts of the Clinical Genome Resource (ClinGen) LGMD Variant Curation Expert Panel (LGMD VCEP) and Muscular Dystrophies and Myopathies Gene Curation Expert Panel (MDM GCEP) directed by Dr. C. Chris Weihl. Additional responsibilities include data analysis; contributing to research objectives by serving as clinical genetics SME; preparation and delivery of scientific presentations and manuscripts; grant writing; and training and management of junior biocurators. This individual must be successful working independently and as part of a team and will be responsible for project planning and deliverables related to variant and gene curation. Additional leadership opportunities to identify and address areas of unmet need in neuromuscular disease genetic diagnosis will be provided. Successful job performance will require learning and implementing the curation frameworks and procedures developed by ClinGen.

Job Description

• 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.

• Provide interpretation of the clinical significance of variants and genes by gathering relevant evidence from public and internal sources and applying appropriate curation frameworks.

• Assess quality control metrics as they relate to next generation sequencing and variant interpretation.

• Train clinical staff, residents, fellows, and junior variant scientists to conduct variant interpretation.

• Supervisor oversight for more junior variant scientists to ensure high-quality output and timely progress toward promotion.

• Develop, implement, and evaluate information, tools, and processes to assist clinical faculty/staff with clinical genomic testing, variant analysis/interpretation, and reporting.

• Involvement with clinical genomics test development, improvement, optimization, validation, and assurance of regulatory compliance.

• Develop and maintain standard operating procedures for clinical genomic workflows.

• Participate in continuing education activities including grand rounds, case conferences, and complex variant discussions/presentations.

• Support clinical and research faculty/staff with translational research projects.

• Adherence to ClinGen procedures and coordination of expert panel activities.

• Development of gene and disease specific variant pathogenicity classification guidelines.

• Clear communication with LGMD experts and stakeholders and participation in video conference calls.

Working Conditions:

Job Location/Working Conditions

• Normal office environment.

Physical Effort:

• Typically sitting at a desk or table.

Equipment:

• Office equipment.

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:

Ph.D. - Doctor Of Philosophy

Certifications/Professional Licenses:

No specific certification/professional license is required for this position.

Work Experience:

Professional (3 Years)

Skills:

Not Applicable

Driver's License:

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

More About This Job

WashU seeks highly motivated individuals who are able to perform duties in a manner consistent with our core mission and guiding principles.

Preferred Qualifications

Education:

No additional education unless stated elsewhere in the job posting.

Certifications/Professional Licenses:

No additional certification/professional licenses unless stated elsewhere in the job posting.

Work Experience:

No additional work experience unless stated elsewhere in the job posting.

Skills:

Assessment Interpretation, Biology, Clinical Databases, Clinical Laboratory Operations, Communication, Data Security, Detail-Oriented, Genetic Research, Group Problem Solving, Microsoft Office, Next Generation Sequencing (NGS), Prioritization, Stress Management, Team Organization, Working Independently

Grade

C16

Salary Range

$89,400.00 - $138,500.00 / 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 Screening

All 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 Statement

Personal

• Up to 22 days of vacation, 10 recognized holidays, and sick time.

• Competitive health insurance packages with priority appointments and lower copays/coinsurance.

• Take advantage of our free Metro transit U-Pass for eligible employees.

• WashU provides eligible employees with a defined contribution (403(b)) Retirement Savings Plan, which combines employee contributions and university contributions starting at 7%.

Wellness

• Wellness challenges, annual health screenings, mental health resources, mindfulness programs and courses, employee assistance program (EAP), financial resources, access to dietitians, and more!

Family

• We offer 4 weeks of caregiver leave to bond with your new child. Family care resources are also available for your continued childcare needs. Need adult care? Weâ™ve got you covered.

• WashU covers the cost of tuition for you and your family, including dependent undergraduate-level college tuition up to 100% at WashU and 40% elsewhere after seven years with us.

For policies, detailed benefits, and eligibility, please visit: https://hr.wustl.edu/benefits/

EEO Statement

Washington University in St. Louis is committed to the principles and practices of equal employment opportunity. It is the Universityâ™s policy to provide equal opportunity and access to persons in all job titles without regard to race, ethnicity, color, national origin, citizenship (where prohibited by federal law), age, religion, sex, sexual orientation, gender identity or expression, disability, protected veteran status, or genetic information.

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