But what is a Genome?
The genome is all the genes - plus some extra - that make up an organism. More accurately, it is the entire set of DNA instructions found in a cell. Why is it important? It contains all the information needed for an individual to develop and function.\
On average if the genomes of two humans were compared, they would be 99.8– 99.9% the same. That’s very similar, but not quite. This 0.1– 0.2% that differs includes roughly three to five million differences. These differences are called variants. It’s these little variants that make us different from each other - in good ways and bad.\
These variations not only influence our physical traits - like skin and eye color, height, etc, but also our risk of developing a certain disease, like Diabetes. Understanding these variations could help us in prediction, prevention, diagnosis, and treatment of disease - if only we had a way to associate these variations to disease… Enter: GWAS!\
But before we go there, how do we even get our hands on a human genome? Let alone study the variants?