RCIGM leads in the field of rapid genomic diagnostics. The Clinical Genomics Analyst is a highly qualified PhD or master level professional who will be part of the Clinical Interpretation Team in our diagnostic laboratory. The primary responsibility of the Clinical Genomics Analyst will be to analyze and interpret genomic patient data in the context of rapid diagnostics with the support of scientists, bioinformaticians, genetic counselors and clinicians. The Clinical Genomics Analyst will also contribute to improve analysis workflows and collaborate in research opportunities.
Doctorate or Master level Degree (non MD)
At least 3 years of experience
Hold a PhD or Master level degree in Genetics or related life science field, including genetic counseling
Computer skills including experience analyzing next generation sequencing (NGS) data using tools such as IGV, and ability to perform basic functions in a windows environment
Experience with standardized variant and gene curation in accordance with published guidelines
Ability to understand and utilize public and private variant databases
Experience with genomic testing, tools, and clinical reporting
Our mission at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego is to establish rapid whole genome sequencing (rWGS) as the new standard of care for children in the intensive care unit. RCIGM continues to strive to provide timely diagnoses and improve patient outcomes. We are continuing to build out our multidisciplinary genomics team including, but not limited to, clinical laboratory scientists, board-certified medical and molecular geneticists, bioinformaticians, software engineers and genetic counselors, all driven by the mission of facilitating the diagnosis and the treatment of childhood genetic disorders using genomics.The Institute is embedded within and supported by the Rady Children’s Hospital-San Diego (RCHSD), the 6th largest children’s hospital in the U.S. RCHSD is a non-profit, 505-bed pediatric-care facility dedicated to excellence in care, research, and teaching. To attract and retain highly qualified employees, Rady Children's offers employees a comprehensive package of benefits, including medical, dental, vision, life insurance and even pet insurance, a retirement plan with company matching, a wellness program, tuition assistance, employee recogn...ition awards & team Rady (an annual event honoring all employees), discounts on events and attractions around San Diego.