Clinical Genomics Variant Specialist

3 weeks ago

Columbus Ohio, United States Nationwide Children's Hospital Full time
About the Role

We are seeking a highly skilled Clinical Genomics Variant Scientist to join our team at Nationwide Children's Hospital. As a key member of our laboratory, you will play a critical role in accurately identifying and classifying variants detected through genomic testing platforms.

Key Responsibilities
  • Perform 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.
  • Demonstrate 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.
  • Maintain laboratory variant knowledgebase and assist with curation and harmonization of variant classification changes over time.
  • Possess thorough and ongoing knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
  • Assist with research, development, and validation of new genomic assays.
  • Demonstrate self-management skills and ability to work efficiently and independently, promoting a team environment and maintaining a cooperative and supportive atmosphere.
Requirements
  • 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).
  • 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.
About Nationwide Children's Hospital

Nationwide Children's Hospital is a place where passion meets purpose. We are a leading pediatric healthcare system that provides world-class care to children and families. Our team is dedicated to improving the lives of children everywhere, and we are seeking individuals who share our values and commitment to excellence.

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