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Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases

Contributed by:Administrator
Originally posted:15th November 2010: 11:58 am
Short URL:http://gen2phen.org/node/30210
Public document Public - anyone can view
DOI: 
10.1126/science.330.6006.903
URL: 
http://www.sciencemag.org/cgi/content/full/330/6006/903?rss=1

A flurry of reports this year on new genes for rare diseases caused by a defect in a single gene takes advantage of cheap, next-generation DNA-sequencing technologies that make it possible to sequence the 1% of the genome that codes for proteins, known as exons.

Author: Jocelyn Kaiser

G2P Knowledge Centre is part of GEN2PHEN and funded by the Health Thematic Area of the Cooperation Programme of the European Commission within the VII Framework Programme for Research and Technological Development.

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