Variant analyst
PerkinElmer
Mumbai
3d ago

Responsibilities :

  • Critically evaluate and interpret genetic sequence variation identified through diagnostic or predictive clinical genetic testing
  • Work in conjunction with laboratory directors to ensure consistent sequence variant classification
  • Investigate and rectify, if possible, discrepancies in variant classification between PKIG and other diagnostic laboratories
  • Support laboratory directors in evaluating relevance of genes to human disease
  • Support client services department and respond to client requests for information on the interpretation of individual variants
  • Review and update previous sequence variant classifications
  • Additional tasks as required
  • Basic Qualifications :

  • PhD or Master’s degree, or equivalent, in a relevant discipline required
  • Minimum three years combined work experience and education required.
  • Preferred Qualifications :

  • ASCP certification or equivalent highly preferred
  • Previous clinical experience highly preferred
  • Proven ability to critically read and interpret scientific literature
  • Ability to synthesize and present complex information in brief but clear summary
  • Strong computer, scientific, and organizational skills
  • Excellent communication skills (oral and written) and attention to detail
  • Ability to work independently and as part of a team
  • Self-motivation, adaptability, and a positive attitude
  • Ability to learn new techniques, perform multiple tasks simultaneously, keep accurate records, follow instructions, and comply with company policies
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