In this newly created position, you will have the opportunity to shape the high throughput sequencing industry and make an impact on the field of neurological and developmental disorders. In collaboration with our expert team of medical geneticists, genetic counselors, variant scientists, and bioinformatics specialists, you will write and interpret genomic reports, provide genomic counseling services to patients and/or their physicians and be a key contributor to new test development, novel disease discovery, and variant research.
The ideal candidate will have several years experience in a clinical setting (preferably neurogenetics and/or pediatrics), have provided direct patient care, possess strong analytical skills, and familiarity with Next Generation testing technologies.
• Contribute to the interpretation of Next Generation sequencing data by
applying your clinical expertise to the patient’s phenotype and the genetic
variants identified by testing.
• Collaborate in the authorship of scientific manuscripts for publication, case
reports, abstracts, and poster presentations for scientific meetings.
• Communicate with patients and clinicians regarding test interpretations and
• Elicit targeted pedigrees, medical, and developmental histories.
• Provide follow-up and coordination of complex cases and extended family
• Assist in the development of materials in support of our products.
• Participation in a variety of interesting specialized projects.