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A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

Contributed by:Administrator
Originally posted:3rd May 2011: 11:57 am
Short URL:http://gen2phen.org/node/38475
Public document Public - anyone can view
DOI: 
10.1371/journal.pbio.1001046
URL: 
http://feeds.plos.org/~r/plosbiology/NewArticles/~3/ABJIGXgg1SY/info%3Adoi%2F10....

The Encyclopedia of DNA Elements (ENCODE) Project was created to enable the scientific and medical communities to interpret the human genome sequence and to use it to understand human biology and improve health. The ENCODE Consortium, a large group of scientists from around the world, uses a variety of experimental methods to identify and describe the regions of the 3 billion base-pair human genome that are important for function.

Common Disease: Are Causative Alleles Common or Rare?

Contributed by:Adam Webb
Originally posted:18th January 2011: 9:00 am
Last updated:21st January 2011: 4:57 pm
Short URL:http://gen2phen.org/node/33383
Public document Public - anyone can view

Article in PLoS Biology:

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

Contributed by:Adam Webb
Originally posted:18th January 2011: 9:00 am
Last updated:21st January 2011: 4:53 pm
Short URL:http://gen2phen.org/node/33378
Public document Public - anyone can view
DOI: 
10.1371/journal.pbio.1000579
URL: 
http://feeds.plos.org/~r/plosbiology/NewArticles/~3/IJ_sjJsbuy0/info%3Adoi%2F10....

Another detailed perspective in PLoS Biology.

Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals

Contributed by:Adam Webb
Originally posted:18th January 2011: 9:00 am
Last updated:21st January 2011: 4:49 pm
Short URL:http://gen2phen.org/node/33379
Public document Public - anyone can view
DOI: 
10.1371/journal.pbio.1000580
URL: 
http://feeds.plos.org/~r/plosbiology/NewArticles/~3/zbE3b0N0Y-M/info%3Adoi%2F10....

Synthetic associations have been posited as a possible explanation for missing heritability in complex disease. We show several lines of evidence which suggest that, while possible, these synthetic associations are not common.

Rare Variants Create Synthetic Genome-Wide Associations

Contributed by:Administrator
Originally posted:27th January 2010: 1:40 pm
Last updated:27th January 2010: 1:42 pm
Short URL:http://gen2phen.org/node/12113
Public document Public - anyone can view
DOI: 
10.1371/journal.pbio.1000294
URL: 
http://dx.doi.org/10.1371/journal.pbio.1000294

A large number of different common variants has been associated with very modest increases of risk for various common diseases. A simulation study shows that rare variants with much greater impacts on disease risk may be responsible for some of these associations.

Abstract:

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.

© GEN2PHEN 2011