September 2012 – A
|Nature ENCODE Explorer|
This concept developed by Nature Publishing and Illumina, is a tour through the publications related to the Encyclopedia of DNA Elements, ENCODE, an enormous effort with the purpose of identifying and characterizing functional segments of DNA sequence from the Human Genome Project.
|From McIntyre et al., (2012).|
A recent study reports that the use of adenoviral gene therapy could restore the sense of smell in mice affected with a ciliopathy related to a mutation in a protein (IFT88, a intraflagellar transport protein). Interestingly, this mutation was also found to be the cause of human ciliopathy.
|From Meyer et al., (2012).|
In a recent publication by the group of Dr. Pääbo, they report they were able to assemble and sequence with a 30x coverage the genome of a Denisovan specimen, an ancient hominid related to Neandertals. Previous attempts only reached 1.9- and 1.3- fold coverage.Whit the high coverage achieved, Dr. Pääbo’s group was able to make inferences about Denisovan genetic diversity and relation with Neandertals and present day Humans.