Clinical Variant Curator

Summary

Join Natera, a global leader in cell-free DNA (cfDNA) testing, as an Associate Clinical Variant Curator. You will assist the laboratory director in accurately identifying and classifying variants detected through clinical molecular genetic screening. This role involves variant annotation using various databases and working with protected health information (PHI) in both paper and electronic formats. You will need to complete HIPAA/PHI privacy, general policies and procedures, and security training within the first 30 days of employment. This position requires a Master's degree in a life science field, at least one year of sequencing data interpretation experience, and research laboratory or clinical experience in human genetics. Familiarity with NCBI and other germline databases, Sanger Sequencing, and Next-generation sequencing (NGS) is preferred. You will be part of a diverse team and will have the opportunity to work with statisticians, geneticists, doctors, laboratory scientists, business professionals, software engineers, and other professionals from world-class institutions.

Requirements

• 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
• 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
• Computational biology knowledge is required
• Effective verbal and written communication abilities

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

Preferred Qualifications

• 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
• Knowledge of laboratory operations and decorum is beneficial
• 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

Benefits

• Competitive Benefits - Employee benefits include comprehensive medical, dental, vision, life and disability plans for eligible employees and their dependents
• Additionally, Natera employees and their immediate families receive free testing in addition to fertility care benefits
• Other benefits include pregnancy and baby bonding leave, 401k benefits, commuter benefits and much more
• We also offer a generous employee referral program!