Clinical Variant Curator at Natera
Position: Clinical Variant Curator
Job Id: 4177
# of Openings: 1
- The Clinical Variant Curator is an independent role in the interpretation of results for clinical DNA specimens for diagnosing genetic disease, using manual and automated methods in a team environment, and following established policies and procedures, in a professional manner.
- Additionally, aides the laboratory director during the test development and validation of clinical testing pipelines.
- The curator cultivates excellent working relationships with Research and Development, Process Development and Operations, Genetic Counseling, LIMS support engineering and the biostatistics and bioinformatics teams.
- Efficiently reviews data (ABI, NGS, MLPA, etc.) and approves results according to standard procedures.
- Efficiently evaluates and provides assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations (CNV).
- Assists in the development of procedures for classifying genetic variation according to ACMG/AMP guidelines, curation in internal databases, submission to ClinVar, and for publication.
- May assist in the instruction of trainees in the Natera CLS training program and/or other duties as assigned.
- This role works with PHI on a regular basis both in paper and electronic form and has access to various technologies to access PHI (paper and electronic) in order to perform the job.
- Employee must complete training relating to HIPAA/PHI privacy, General Policies and Procedure Compliance training and security training as soon as possible but not later than the first 30 days of hire.
- Must maintain a current status on Natera training requirements.
- Employee must pass post-offer criminal background check.
- Masters in a Life Science such as Molecular Biology/Genetics/Bioinformatics/Biochemistry or equivalent; Ph.D. preferred.
- A minimum of 3 years of ABI, NGS, MLPA data interpretation experience.
- Clinical laboratory experience in human genetics required.
KNOWLEDGE, SKILLS, AND ABILITIES:
- A strong background in Human Genetics is essential.
- In-depth understanding of the biology, molecular mechanisms and functional studies of human genetic disease genes is necessary.
- The ability to critically read, understand, and interpret data from scientific publications on a daily basis is required.
- Cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software, and hardware.
- Familiarity with NCBI and other germline databases, Sanger Sequencing and Next-generation sequencing (NGS) is strongly preferred
- Technical skills include knowledge of elementary statistics, interpretation of graphs and quick grasp of scientific data.
- Ability to perform a “paper chase” through the scientific literature to understand the significance of a particular human variant.
- Ability to provide succinct written and verbal summaries of medical and scientific literature.
- Computer literacy required.
- Ability to interact favorably with large cross-functional teams and get along with and prosper working in a diverse group of people is required.
- Ability to read, interpret and summarize human molecular genetics scientific literature.
- Knowledge of laboratory operations is beneficial.
- Effective verbal and written communication abilities.
PHYSICAL DEMANDS & WORK ENVIRONMENT:
- Duties are performed mainly in an office adjacent to a laboratory setting.
- Long duration of keyboard and screen use is expected.
- Duties may require working on weekends and/or after hours.
- Occasional travel is expected (less than 5% of the time).
Travel required for this position:
No _X__ or Yes __ : If yes state anticipated percent for travel: 0
- Driven by the passion for elevating the science and utility of genetic testing, Natera is committed to helping families identify and manage genetic diseases.
- Natera is a rapidly-growing diagnostics company with proprietary bioinformatics and molecular technology for analyzing DNA.
- Our complex technology has been proven clinically and commercially in the prenatal testing space and we are actively researching its applications in the liquid biopsy space for developing products with oncology applications.
- The Natera team consists of highly dedicated statisticians, geneticists, doctors, laboratory scientists, business professionals, software engineers and many other professionals from world-class institutions, who care deeply for our work and each other.
- When you join Natera, you’ll work hard and grow quickly.
- Working alongside the elite of the industry, you’ll be stretched and challenged, and take pride in being part of a company that is changing the landscape of genetic disease management.
WHAT WE OFFER
Competitive Benefits. Healthy catered lunches, Premium snacks and beverages, Onsite gym with cardio and weight-training equipment, Game room with satellite TV, Onsite dry cleaning and alteration service with pick-up and delivery, Employee-organized sport leagues, Happy hours and BBQs, Generous Employee Referral program.
For more information, visit www.natera.com.
Natera is proud to be an Equal Opportunity Employer. We are committed to ensuring a diverse and inclusive workplace environment, and welcome people of different backgrounds, experiences, abilities and perspectives. Inclusive collaboration benefits our employees, our community and our patients, and is critical to our mission of changing the management of disease worldwide.
All qualified applicants are encouraged to apply, and will be considered without regard to race, color, religion, gender, gender identity or expression, sexual orientation, national origin, genetics, age, veteran status, disability or any other legally protected status. We also consider qualified applicants regardless of criminal histories, consistent with applicable laws.
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