Senior Clinical Variant Scientist (Remote) - Neurology

Washington University in St. Louis

6d•Remote

About The Position

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.

Requirements

Ph.D. - Doctor Of Philosophy
Professional (3 Years) Work Experience
Ability to perform duties in a manner consistent with our core mission and guiding principles.
Ability to work independently and as part of a team.
Ability to learn and implement curation frameworks and procedures developed by ClinGen.

Nice To Haves

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

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.
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.

Benefits

Up to 22 days of vacation
10 recognized holidays
Sick time
Competitive health insurance packages with priority appointments and lower copays/coinsurance
Free Metro transit U-Pass for eligible employees
Defined contribution (403(b)) Retirement Savings Plan, which combines employee contributions and university contributions starting at 7%
Wellness challenges
Annual health screenings
Mental health resources
Mindfulness programs and courses
Employee assistance program (EAP)
Financial resources
Access to dietitians
4 weeks of caregiver leave to bond with your new child
Family care resources for continued childcare needs
Adult care resources
Tuition coverage for you and your family, including dependent undergraduate-level college tuition up to 100% at WashU and 40% elsewhere after seven years with us.