Karen Eilbeck, PhD

Dr. Karen Eilbeck is Associate Professor of Biomedical Informatics and adjunct Assistant Professor of Human Genetics at the University of Utah. Dr. Eilbeck has led efforts to standardize terminology and data representation to enable computation upon and diagnostic use of genomic data files. As a member of the Gene Ontology Consortium, Dr. Eilbeck developed the Sequence Ontology and worked to integrate ontologies with public heath data. She is currently working with a CDC lead working group that includes representatives from diagnostic sequencing labs, sequencing platforms, informatics standards groups and policy makers, to understand the requirements for diagnostic use of variant files, and co-lead the development of VCFclin, a clinically-driven and fully backward compatible version of the VCF format. Dr. Eilbeck also co-leads the ClinVar data standards and IT working group, and is a member of the ClinGen data model group of the ClinGen¹s U41 consortium.