A genome holds folded in it all the information necessary for the development of an individual. It is the storage medium of life.
A human genome consists of DNA, a string of 6 billion nucleotides or bases of four different kinds (T, C, G and A). Small differences in our individual sequences are responsible for our different appearances and also our different predisposition to diseases and responses for treatment.
Ten years after the publication of the first draft sequence of the human genome we can now study routinely our individual genomes!
Analysing genomes consists of determining the order of the four bases in a genome. This allows to identify signatures within a genome for the trait under study. This information allows to determine the mechanisms of disease which in turn can be used for example to develop new and better treatments of disease.
Over the last five years new rapid DNA sequencing methods have become available. Second generation sequencing technologies are used to identify somatic variants and rearrangements in cancer, to sequence different organisms, to discover new infectious agents, to determine gene variants that predispose to disease, to create a catalogue of human genetic variation, to profile gene expression in different tissues, to characterize evolutionary relationships of ancient genomes, among many other applications.
At the CNAG we can currently sequence 250 gigabases per day (250,000,000,000 bases) and generate a complete human genome at 30-fold coverage in less than one day.
