Cracking the regulatory code (Nature,2017)

How does the same DNA sequence, present in almost every cell in the body, give rise to diverse tissues that have distinct functions?

genetic variants that drive inter-individual differences in complex traits, including disease, are often found in non-protein-coding regions of the genome that might determine how and when genes are expressed.

 move beyond descriptive work to an understanding of the actual mechanisms that underlie gene-regulatory programs

factors affecting gene expression (for example, chromosome accessibility, transcription-factor binding and the modification of DNA by methyl groups)

Genetic variants can affect aspects of the gene-regulatory cascade other than levels of RNA

The rate of gene transcription, the mechanism of RNA processing and the rate of translation are three such examples.

Human Genomics: Cracking the Regulatory Code (PubMed, 2017)