Access
This article is part of Nature's premium content.
Published online 13 November 2009 | Nature | doi:10.1038/news.2009.1085
News
Selective sequencing solves a genetic mystery
Examining only protein-coding genes finds cause of Miller syndrome.
Targeted sequencing of the entire protein-coding portion of the human genome has for the first time discovered the cause of a rare genetic disorder.
"This technology is incredibly promising," says James Kiley, director of the division of lung diseases at the National Heart, Lung and Blood Institute in Bethesda, Maryland, which partly funded the work.
To read this story in full you will need to login or make a payment (see right).
Comments
Reader comments are usually moderated after posting. If you find something offensive or inappropriate, you can speed this process by clicking 'Report this comment' (or, if that doesn't work for you, email webadmin@nature.com). For more controversial topics, we reserve the right to moderate before comments are published.
Known genes make up about 1% of the genome but the ENCODE project found that genes made up about 3%. Clearly there are a lot of genes waiting to be found. A large chunk of these may be noncoding but not all of them. There are probably hundreds, perhaps even thousands, of protein-coding genes still to be found. The exome may be bigger than we currently think.