The international consortium 1000 Genomas has achievedsequence the genomes of 1,092 healthy people from a wide range of ethnic groups in fourteen countriesfrom Europe, Africa, Asia and America, according to the magazineNaturein its latest edition.
Human beings share about 99% of the genetic material, and individual differences would be explained by the remaining 1% of DNA. The 1000 Genomes Project has as its main objectivecatalog genetic variation in the human species and relate it to the risk of incidence of some diseases. The work, which integrates data from multiple technologies generated by research centers between 2008 and 2011, will also be a benchmark in the optimization of new generation sequencing platforms. As Mark Walport, researcher at the Wellcome Trust Foundation, which has funded part of the project, points out, it is worth noting having taken the step “from sequencing the first human genome in 2003 to being able to do it with more than 1,000 genomes in a single study in 2012 “.
The new international work describes a catalog of 38 million mutations in a single nucleotide of DNA, the so-called single nucleotide polymorphism (SNP), present in the human population. 1.4 million small insertions and deletions and other sources of variability in the human genome have also been identified. “More than half of the 38 million SNPs identified are new polymorphisms unknown until now and in many cases they are mutations, of very low frequency, that cancel the biological function of some protein or gene. Deep down, we are all carriers of mutations potentially deleterious in our genome “, explains Marc Via, collaborator of the Anthropology Unit of the Faculty of Biology of the University of Barcelona and co-author of the study.
The 1000 Genomes project, which includes family groups (mother, father and son) in the population sample, has also been key to carrying outcomparative studies of the genomes of parents and children. In future phases, the project will create a comprehensive map of genetic variations in DNA sequences for nearly 2,500 people from various populations around the world.
As Marc Via concludes, “the 1000 Genomes project is not simply a scientific project that answers questions we ask ourselves. Furthermore, it isa very powerful tool available to any researcher around the world. And one of the great challenges before us is to extract this immense volume of information and translate it into clinical terms. “
