Genomics euphoria: ramblings of a scientist on genetics, genomics and the meaning of life

The role of regulatory genome in human disease

A recent paper in Science perfectly captures the post-ENCODE mood of the community. It seems like we suddenly realized the coding genome is not actually that important. We have remarked over and over in the past couple of weeks that the majority of whole-genome association studies (GWAS) actually map to non-coding DNA as opposed to coding sequences. And now, armed with the knowledge that the non-coding genome has far-reaching regulatory consequences, it is very likely that the genetic component of many complex human diseases are in fact driven by regulatory interactions. And this Science paper very clearly portrays this idea. They use DNAse I hypersensitivity data as a proxy for the parts of the genome are bound by proteins in vivo. They then look at the overlap between DNase I hypersensitive sites (DHSs) and the available phenotypic and disease data. They show that many variants at these sites have regulatory consequences and they make the case that the role of regulatory genome in disease is ubiquitous and profound.

As I said, this study very well captures the consensus view-point of the community and I think we’ll see an explosion in these type of studies that would put the regulatory genome front and center as opposed to the coding DNA. With the low-hanging fruits already discovered in genetic studies, and the emergence of effective methods based on high-throughput sequencing, we are now poised to better understand regulatory networks in all their glory.


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