We are looking for an exceptional variant analyst who is able to work independently to critically review scientific literature and genetic databases, classify genetic variants found through clinical genetic testing, and summarize large amounts of information to provide reasoning behind those classifications to laboratory directors.
KEY FOCUS AREAS
Include but are not limited to:
- 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
- Assist in preparation of manuscripts
- Additional tasks as required
Job Requirements :
- PhD or Master's degree, or equivalent, in a relevant discipline required
- Minimum three years combined work experience and education required
- Proven ability to critically read and interpret scientific literature
- Ability to synthesize and present complex information in brief but clear summary
- Authorization to work in the United States indefinitely without restriction or sponsorship
- 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
PerkinElmer is committed to creating a diverse environment and is proud to be an equal opportunity employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, gender, gender identity or expression, sexual orientation, national origin, genetics, disability status, age, or veteran status or any other characteristics protected by applicable law. PerkinElmer is committed to a culturally diverse workforce.
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