AACC 2012 Booth Presentation: Analysis Approaches for the Clinical Exome


Clinical exome sequencing can identify candidate genes and mutations for diseases with a suspected genetic etiology but without a known cause. However, with its massive amounts of data, exome-scale sequencing poses unique challenges for clinical laboratories. This presentation will focus on the applications and interpretation of NGS in a clinical setting and will provide approaches for data analysis. Selecting appropriate family members and filtering data to increase the likelihood of finding the causative variant will also be discussed.

Originally presented on July 17, 2012, in Los Angeles, California.

Lecture Presenter

Elaine Lyon, PhD

Elaine Lyon, PhD

Medical Director, Genetics Division
ARUP Laboratories
Co-Medical Director, Pharmacogenetics
ARUP Laboratories
Associate Professor of Pathology
University of Utah School of Medicine

Dr. Lyon is the medical director of the Genetics Division, co-medical director of Pharmacogenomics, and co-director of the Molecular Genetics Fellowship Program at ARUP, and an associate professor of pathology at the University of Utah School of Medicine. She received her PhD in medical genetics from the University of Alabama at Birmingham and continued with fellowship training in clinical molecular genetics at the University of Utah. Dr. Lyon combines clinical laboratory responsibilities with research and development in human genetics, employing methods for mutation detection by targeted mutation analysis, gene sequencing, gene scanning, exonic-level deletion, and duplications and molecular haplotyping. Dr. Lyon has focused her interest in studies to determine the significance of rare variants and is involved with evaluating and establishing locus-specific databases that combine genetic variants with clinical symptoms.

Sponsored by:

University of Utah School of Medicine, and ARUP Laboratories