Associate Clinical Variant Curator
Our client is a leader in women’s health through genetic screenings. They are transforming therapeutics and changing lives.
The Associate 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 associate 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 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.
- Employee must pass post offer criminal background check.
- 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.
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).