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Clinical Exome Sequencing
Clinical Exome Sequencing is a test for identifying disease-causing DNA variants within the 1% of the genome which codes for proteins (exons) or flanks the regions which code for proteins (splice junctions). It is widely accepted that about 85% of known disease-causing variants occur within the 1% of the genome containing the exons and splice junctions; thus, surveying just this portion of the genome is an efficient and powerful clinical diagnostic tool for individual patients. In this talk, we will discuss methodology, validation, regulation, reporting, and bioinformatics aspects of clinical exome testing.
Originally presented May 17, 2013 in Salt Lake City, Utah.
Pinar Bayrak-Toydemir, MD, PhD
Associate Medical Director, Molecular Genetics, ARUP Laboratories
Associate Professor of Pathology, University of Utah School of Medicine
Dr. Bayrak-Toydemir is the medical director of the Molecular Genetics Laboratory at ARUP and an assistant professor of pathology at the University of Utah School of Medicine. Dr. Bayrak-Toydemir received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. She is board certified in medical genetics, and her research interests include fetal-cell analysis in maternal blood and hereditary hemorrhagic telangiectasia.
Rong Mao, MD
Medical Director, Molecular Genetics, ARUP Laboratories
Assistant Professor of Pathology, University of Utah School of Medicine
Dr. Mao is the medical director of Molecular Genetics at ARUP, and an assistant professor of pathology and co-director of the Clinical Medical Genetics Fellowship Program at the University of Utah School of Medicine. Dr. Mao received her MD from Capital University of Medicine in Beijing, China and her MS in molecular pathology from Beijing Union Medical College. She is certified by the American Board of Medical Genetics, with a subspecialty in clinical molecular genetics, and by the New York State Department of Health, with a subspecialty in genetic testing.
After this presentation, participants will be able to:
- Understanding of exome testing in diagnostic era.
- Understanding of regulation issues and reporting incidental findings.
- Discussing the complicity of exome sequencing data interpretations.
University of Utah School of Medicine, University of Utah Department of Pathology, and ARUP Laboratories