Clinical Variant Curator

POSITION SUMMARY:

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.

PRIMARY RESPONSIBILITIES:

• 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.

QUALIFICATIONS:

• Masters in a Life Science such as Molecular Biology/Genetics/Bioinformatics/Biochemistry or equivalent; PhD 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.
• 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 a 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.

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The pay range is listed and actual compensation packages are based on a wide array of factors unique to each candidate, including but not limited to skill set, years & depth of experience, certifications and specific office location. This may differ in other locations due to cost of labor considerations.Remote - USA$85,000—$100,000 USD

OUR OPPORTUNITY

Natera™ is a global leader in cell-free DNA (cfDNA) testing, dedicated to oncology, women’s health, and organ health. Our aim is to make personalized genetic testing and diagnostics part of the standard of care to protect health and enable earlier and more targeted interventions that lead to longer, healthier lives.

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 - Employee benefits include comprehensive medical, dental, vision, life and disability plans for eligible employees and their dependents. Additionally, Natera employees and the