Interpreting the Human Genome Using Biomedical Informatics and Systems Biology
Since sequencing the initial human genome draft in 2001, sequencing costs have decreased dramatically leading to an increase in sequencing for diagnostic or risk assessment. This has led to the creation of computational resources and tools to assist in identification of previously observed pathogenic genetic variants and methods for pathogenic variant discovery. In this presentation, Sean David Mooney, Ph.D., summarizes the resources available for assisting in genome interpretation and research.
Sean David Mooney, PhD, professor, Department of Biomedical Informatics and Medical Education,
chief research information officer, UW Medicine, UW