Clinical Genomics Variant Scientist
Requisition ID
2024-52652
Category
Research
Overview
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.
Why Nationwide Children\'s Hospital?
The moment you walk through our doors, you feel it. When you meet our patient families, you believe it. And when you talk with anyone who works here, you want to be part of it. Welcome to Nationwide Children\'s Hospital, Where Passion Meets Purpose.
Here, Diversity, Equity and Inclusion are integrated into our core values and practices. We are passionate about building, sustaining and evolving an inclusive and equitable environment. We are seeking individuals who live these values and want to share their experiences and efforts in support of our collective mission.
We\'re 14,000 strong. And it takes every one of us to improve the lives of the kids we care for, and the kids around the world we\'ll never meet. Kids who live healthier, fuller lives because of the knowledge we share. We know it takes a Collaborative Culture to deliver on our promise to provide the very best, innovative care and to foster new discoveries, made possible by the most groundbreaking research. Anywhere.
Ask anyone with a Nationwide Children\'s badge what they do for a living. They\'ll tell you it\'s More Than a Job. It\'s a calling. It\'s a chance to use and grow your talent to make an impact that truly matters. Because here, we exist simply to help children everywhere.
Nationwide Children\'s Hospital. A Place to Be Proud.
Responsibilities
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.
Qualifications
KNOWLEDGE, SKILLS A
