A team of researchers, led by Icelandic scientist Kari Stefansson, has succeeded in sequencing the genomes of more than 100,000 Icelandic inhabitants. It is undoubtedly the largest study of the complete human genome of a single population . The work has been divided into several different studies and they have been published by the journal Nature Genetics .
Among the data extracted from this complex work, the experts identified more than 20 million genetic variants that can be used, along with other additional information related to genealogical and health records, to better discern the genetic basis of many diseases; its roots, its diversity and its evolution.
” This work is a demonstration of the unique power of sequencing to learn more about the history of our species and contribute to new methods of diagnosis, treatment and prevention of diseases,” explains Kari Stefansson, leader of the study, to the Sinc agency.
To do this, the researchers combined the complete sequencing data with less extensive data from 104,000 more Icelanders in order to give weight to their association tests, finding this large number of genetic variants associated with diseases , demonstrating how with such a small population like ours, and thanks to the generous participation of the majority of its citizens, science and medicine can be advanced throughout the world ”, clarifies Stefansson.
This large-scale sequencing project will not be the only one, since other countries are immersed in it and for the study authors the benefits outweigh the effort. A total of 1,171 “out of the ordinary” genetic rarities were identified, such as the disappearance of olfactory receptor genes, which are responsible for us being able to discriminate between different smells.
Thanks to the volume of data in this genomic portrait of Icelanders, researchers will be able to understand which genes are essential for humans and which are linked to each specific disease .
