What is an exome?

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The exome is the 1% of the human genome that is the most functionally relevant and most likely to cause noticeable phenotypes. Comprised of short segments of DNA called exons, the exome provides the genetic blueprint for proteins[1].


  1. ^ Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, et al. 2008 "Genetic Variation in an Individual Human Exome." PLoS Genetics 4(8): e1000160. doi:10.1371/journal.pgen.1000160
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