Closer to the mystery of Genome

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The National DNA Bank of Salamanca has prosecuted seven percent of the samples of the project “1000 Genomes” designed to determine the influence of the genome in the development of disease.The initiative aims to characterize in detail the variability in the human genome sequence to provide a detailed map of the genome that make it easier for researchers to study the relationship of genotype with susceptibility to diseasesThis work shows that individuals from different populations have different genetic profiles with respect to rare and common genetic variants.

The project has been developed by nearly 400 professionals from more than 100 different institutions have sequenced the genomes of 1092 individuals of fourteen human populations with different geographical origins in America, Africa, Asia and Eastern Europe. One of these populations, selected for their possible genetic diversity was the Spanish peninsular (IBS – ‘Iberian Population in Spain’ -).

With this objective in the National DNA Bank, in close collaboration with 29 Regional Centers transfusion and blood banks with theparticipation ‘altruistic and essential “to the donors themselves, were collected and processed a total of 62 family groups (father, mother and adult son), from virtually all regions.

As did other large reference projects on the human genome, the results achieved in the project developed by the Consortium “1000 Genomes” is made public, through genetic databases gated reference, for free any researcher of the international scientific community.

The results, in Nature

The results of this ambitious initiative, whose methods and genetic data obtained form the basis for the next phase of human genetic research, will be published tomorrow, November 1, in the journal Nature in a paper to sign two researchers from the Cancer Center Salamanca .“1000 Genomes” seeks help clarify what is the genetic component of disease by creating a genetic map to collect the full range of variations between different individuals and population groups.

In development work have been used and developed bioinformatics methods that have enabled integrated, cross and compare information from different sequencing technologies for next-generation mass (NGS). This methodology has been described the location, allele frequency and gene structure of 38 million SNPs (single nucleotide changes, the basic unit of DNA), 1.4 million “indels” (insertions and / or loss of small gene fragments of more than one nucleotide) and about 14,000 large structural variants gene regions, most of which had not been described previously. Thus, the genetic map now published can be found approximately 98 percent of gene variants with a frequency less than one percent may be present in any individual belonging to any of the populations studied.

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