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The exome is the part of the genome formed by exons, the coding portions of genes that are expressed. Providing the genetic blueprint used in the synthesis of proteins and other functional gene products, the exome is the most functionally relevant part of the genome, and, therefore, the most likely to contribute to the phenotype of an organism. The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome or about 30 megabases of DNA. Though comprising a very small fraction of the genome, mutations in the exome are thought to harbor 85% of disease-causing mutations. Exome sequencing has proved to be an efficient strategy to determine the genetic basis of more than a two dozen Mendelian or single gene disorders.

Examples of research projects using exome sequencing include the nonprofit Personal Genome Project (PGP), the NIH-funded Exome Project, the NHGRI-funded Mendelian Exome Project, the NHLBI Grand Opportunity Exome Sequencing Project and the microarray-based Nimblegen SeqCap EZ Exome from Roche Applied Science.