The international consortium of the “1000 Genomes Project” has just published “thefirst large-scale inventory of human genetic diversity“, which identifies 95% of the most common genetic variations in the world population. Knowing the genetic differences between individuals will help explain why some people are at higher risk than others of developing diseases such as diabetes or cancer.
As detailed today in the magazineNature, the researchers compared thecomplete genomesof 179individuals from three continents: Africa, Europe and Asia. In addition, the project included the sequencing ofprotein-coding genes from 697 other subjects. In total, more than 4.5 terabases have been obtained, that is,4.5 billion “letters” of DNA.
“It is only a beginning”, explained the British Richard Durbin, for whom the great value of this database is to give a more global vision of the human genome and to providea new working tool for scientists around the world.
With the new data on the table, researchers have found that, on average, each person has between 250 and 300 mutations that could cause a certain gene to stop working normally. And if that was not enough,each of us also carries between 50 and 100 genetic variantsthat are associated withhereditary diseases. “No human being has a ‘complete set’ of perfect genes,” the study authors clarify. Fortunately, since each person has at least two copies of each gene, individuals remain healthy despite carrying faulty genes because the “second copy” works correctly.
