SNPs, copy numbers & gene expression

Had to link to a paper with such a title. Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes:

...SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap....

Here's a quote from a popular press article:

"We've been able to look back into our history and find changes that are older and likely to be shared among populations," explained Dr Manolis Dermitzakis, senior author and Project Leader at the Wellcome Trust Sanger Institute. "But we also find many that are newer and less widespread."

"These are part of our recent evolution and a step along the way to understanding the origin and personal consequences of genetic change, not least for our wellbeing. This is a first generation map of biologically important DNA sequence variation"

Tags

More like this

There's an old paradigm in human population genetics that we each differ from each other by less than one percent at the DNA sequence level. While that may be true for our DNA sequences, recent work indicates that there's also quite a bit of variation amongst individuals in the actual content of…
Phenotypic differences between populations, species, or any other taxonomic classification can be attributed to genetic and environmental causes. The genetic differences can be divided into sequence divergence of transcribed regions, copy number divergence, and expression divergence. These…
I've had the immense good fortune to have trained and ultimately become a physician-scientist during a time when the pace of discovery and the paradigm changes in science have occurred just over the course of my career in medicine and science has been staggering. microRNA, the shift from single…
Wellcome Trust Case Control Consortium. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls Nature, 464 (7289), 713-720 DOI: 10.1038/nature08979 The Wellcome Trust Case Control Consortium has just published the results of a massive…