The Division of Neuroscience sponsored a half day meeting on exome sequencing on January 28, 2010 in Bethesda, MD. The purpose of the meeting was to discuss recent technical advances in genetics, called next generation sequencing, which allows for selective sequencing of complete coding regions of the genome called “exons”. The ~180,000 exons in the human genome comprise about 1% of the human genome and provide the genetic blueprint for proteins. The goals of the meeting were: 1. to understand the methods used in exome sequencing; 2. to define what is needed to set up and analyze an exome study; 3. to discuss data analysis and statistical platforms; 4. to learn where exome sequencing can leverage existing data and sample sets; and 5. to consider whether the technology is ready and appropriate for a complex neurological disease such as Alzheimer’s Disease. Expertise was provided by intramural NIH staff as well as extramural investigators who have participated in the Human Genome, Hap Map, and Thousand Genomes project; and by those who have expertise in genome wide association study and exome sequencing. There was general agreement that exome sequencing is feasible for a disease such as Alzheimer’s because DNA samples from well phenotyped subjects are available.
Dr. Marilyn Miller