The building blocks of our DNA are 3.2 billion bases. These are four different bases, usually represented by the letters: A, T, C and G. The order of the bases determines the hereditary characteristics of the individual. When you use sequencing technology for genome reading, it's the order of this huge amount of bases that gets read. The reading provides us with knowledge that makes it easier to understand various diseases and enables us to offer more accurate and effective disease treatment.
Some diseases can occur when, for various reasons, the bases are replaced, added or disappear, just like a spelling error in the DNA. We can compare the genomes of a patient group and a group of healthy people for the purpose of ascertaining certain patterns. Analyses like this can map possible links between gene variants and disease, and the knowledge obtained can be used to target the treatment to the individual patient - socalled personalised medicine.
Some diseases can be caused by a single mutation in a base, while other diseases are more complex, and the cause can be found in several different genes as well as environmental factors.
Read more about procedure in genome sequencing.