DNA sequencing for the diagnosis of human disease has developed at a rapid pace. While
the cost of whole genome sequencing using next generation sequencing technology has
continue to decrease, the use of whole exome sequencing continues to be of great value,
especially in a clinical setting. This is because the majority of Mendelian disorders
continue to be in coding regions, and the effect of single base pair changes are still
best understood in the exome. In this talk we will compare whole genome and whole
exome analyses and discuss the advantages of the different types of exome panels available
clinically. We will briefly demonstrate some useful tools for evaluation of families
and present several successful exome studies.
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