Clinical Genomics Variant Scientist

The Clinical Genomics Variant Scientist is responsible for accurately identifying and classifying variants detected through genomic testing platforms. The Variant Scientist has overall responsibility for surveying published scientific literature and databases to write scientifically accurate content for clinical reporting and upkeep of the laboratory variant knowledgebase. The Variant Scientist will aid in new test development and adapt responsibilities as related to changes in the field of genomics. Experience in curation of oncology variants is preferred.

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Responsibilities:

Understands and demonstrates Nationwide Children's Hospital Staff Core Competencies.
• Performs technical review of sequencing data derived from NGS and Sanger based assays, including genome, exome, panel, and single-site variant data, as well as other molecular assay data.
• Demonstrates ability to provide accurate and timely variant assessment, including evaluation of published literature and clinical data to provide accurate, thorough, and thoughtful clinical interpretation of results.
• Maintains laboratory variant knowledgebase and assists with curation and harmonization of variant classification changes over time.
• Possesses thorough and ongoing knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
• Assists with research, development, and validation of new genomic assays.
• Demonstrates self-management skills. Demonstrates the ability to work efficiently and independently, promoting a team environment and maintaining a cooperative and supportive atmosphere.
• Demonstrates knowledge of and upholds applicable laws and regulations related to the position and clinical laboratories. Maintains knowledge of techniques, procedures, and protocols.
• Reviews and acknowledges procedures as required.
• Assists in process development/improvement within the department including participating in quality assurance, continuing education programs, and department meetings.
• Demonstrates the discipline-specific technical and computer skills required for the appropriate section of the laboratory.
• Working knowledge of software tools and databases for genomic interpretation and visualization.

KNOWLEDGE, SKILLS AND ABILITIES REQUIRED:

Education:

• PhD in biological sciences, or related field, with 2-5 years of experience in genetics preferred.
• Master's degree in molecular genetics, human genetics, or molecular pathology with 2-5 years of significant and relevant experience including variant classification (including Genetic Counselors with relevant experience).

Skills and Experience:

• Strong analytical skills and ability to critically read and interpret data from scientific publications.
• Extensive experience in data mining and organization.
• Ability to perform technical writing, as well as strong communication and computer skills.
• Good organizational and interpersonal skills.
• Ability to initiate and work on several projects at a time with minimal supervision; motivation to follow through to completion while adhering to deadlines and maintaining accurate records.
• The above list of duties is intended to describe the general nature and level of work performed by individuals assigned to this classification.

EOE M/F/Disability/Vet