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

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.

• 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 E