Associate Clinical Variant Curator

POSITION SUMMARY

The Associate Clinical Variant Curator aides the laboratory director during the test development and validation of clinical testing pipelines. The curator cultivates working relationships with Research and Development, Process Development and Operations, Genetic Counseling, LIMS support engineering and the biostatistics and bioinformatics teams.

PRIMARY RESPONSIBILITIES

• Assists the laboratory director in the accurate identification and precise classification of variants detected through Clinical Molecular Genetic screening.
• Requires variant annotation using many databases.
• This role works with PHI on a regular basis both in paper and electronic form and have an 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.

QUALIFICATIONS

• Masters in a Life Science such as Molecular Biology/Genetics/Bioinformatics/Biochemistry or equivalent; PhD preferred
• A minimum of 1 year of sequencing data interpretation experience.
• Research laboratory and/or clinical experience in human genetics required.

KNOWLEDGE, SKILLS, AND ABILITIES

• Background in Human Genetics is preferred.
• Understanding of the biology, molecular mechanisms and functional studies of human genetic disease genes.
• Ability to read, understand, and interpret data from scientific publications on a daily basis is preferred.
• Cross-disciplinary and analytical skills as well as experience using computational methods, databases, software and hardware.
• Familiarity with NCBI and other germline databases, Sanger Sequencing and Next-generation sequencing (NGS) is 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 written and verbal summaries of medical and scientific literature.
• Computer literacy required.
• Ability to interact 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 many of the following databases: PubMed, dbSNP, OMIM, Chinar, GeneReviews, 1000 Genomes, Seattle SNPs (NHLBI 6500), LOVD and to adjudge amino acid change severity and evolutionary conservation.
• Familiar with the use of the UCSC genome browser and the Human Genome Mutation Database
• Knowledge of laboratory operations and decorum is beneficial.
• Computational biology knowledge is required.
• 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).

#LI-Remote