Variant Classification Scientist/Curator

True Health Diagnostics - Frisco, TX (30+ days ago)3.2

Title: Variant Classification Scientist/Curator

Department: Hereditary Cancer

Required Education, Skills and Experience:

  • MS or PhD graduate degree biology related field. Cancer biology or genetics preferred. BS degree with previous experience can also be considered.
  • Excellent writing ability, communication skills, and problem solving.
  • Ability to work independently while contributing to interdisciplinary teams.
  • Comfortable learning new software.
  • Strong preference will be given to applicants with prior clinical experience in interpreting potential pathogenicity of DNA variants.
  • Prior experience working with human mutation databases such as dbSNP, ClinVar, COSMIC, etc… to aid in the interpretation of genomic variants.
  • Prior experience with genome browsers and HGVS nomenclature.
  • Prior experience in a diagnostic laboratory.

Essential Functions/Responsibilities (other duties may be assigned):

Responsible for the management of the laboratory

  • Participate on the clinical reporting team to help review, interpret, and discuss genomic variants with potential or known association to hereditary cancers and conditions.
  • Ongoing evaluation and review of literature of novel sequence variants relating to hereditary cancer and inherited condition testing to determine clinical relevance and help develop test report language.
  • Assist in variant classification based on emerging scientific information
  • Summarize genetic test results and generate customized result reports.
  • Utilize a variety of in-house software tools to research and write reports.
  • Participate in research and development of new gene panels and tests, and updates to existing tests
  • Assist in the development of education and marketing materials
  • Assist in the development and support of new products in the area of personalized medicine
  • Continuing education by attending professional meetings and participating in professional organizations.

Job Type: Full-time