Scheduled Hours

20

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.

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 Job

Washington 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

Grade

C14

Salary Range

$74