Feb 1, 2019
Exploring the dark side of the genome
Posted by Xavier Rosseel in categories: biotech/medical, genetics, supercomputing
Dr. Rico explained: “When we compare human genomes from different people, we see that they are way more different than we initially expected when the Human Genome Project was declared to be ”completed” in 2003. One of the main contributions to these differences are the so called Copy Number Variable (CNV) regions. CNV regions are in different copy number depending on each individual, and their variability can be greater in some human populations than others. The number of copies of CNV regions can contribute to both normal phenotypic variability in the populations and susceptibility to certain diseases.
Research has shown a direct relationship between mutations in introns and variability in human populations.
One of the greatest challenges of genomics is to reveal what role the ”dark side” of the human genome plays: those regions where it has not yet been possible to find specific functions. The role that introns play within that immense part of the genome is especially mysterious. The introns, which represent almost half the size of the human genome, are constitutive parts of genes that alternate with regions that code for proteins, called exons.