![]() ![]() ![]() Perhaps unsurprisingly, the researchers found that knockouts are least common among genes expressed in the brain, given that organ’s importance. The growing database on knockout genes may prove particularly helpful when matched against the phenotypes of individuals-the physical traits or characteristics that can be observed. Past findings from such research included additional insights about gene variants associated with Alzheimer’s disease and schizophrenia. Genome sequencing has allowed deCODE Genetics to begin data-mining information about how certain genes function and their relationship to a broad array of diseases. This technique can be applied to any population and is all the more accurate when there are pedigrees available for much of the population. This strategy of sequencing the DNA of about 1 in 100 of the population, a total of 2,636 Icelanders, and then using shared sets of common genetic variance to predict the full spectrum of genetic variance carried by the whole population, is a great model for the future of human genetics. Myles Axton, chief editor of Nature Genetics, introduced the Monday press briefing by describing how the genetic sequencing strategy in Iceland could also work for other countries: Iceland represents a unique laboratory for genetics researchers because much of the modern population traces its lineage to a relatively small number of founders a fact that makes it easier to trace genealogies and pedigrees. The company sequenced the whole genomes of 2636 Icelanders and used those genomes as the basis for calculating the genetic variances for the entire Icelandic population. “What is more, we are now sitting in Iceland with the possibility of taking advantage of these insights when it comes to the Icelandic healthcare system.” “These are just a handful of observations that have come out of the ability to look at the sequence of the genome of an entire nation, ” said Kari Stefansson, founder of deCODE Genetics, during a press briefing on Monday, 23 March. Early research has also revealed a mutation in the ABCA7 gene, which doubles the risk of Alzheimer’s disease in Iceland and other populations dominated by European ancestry. Another part of their work discovered that about 7.7 percent of the modern-day population has rare “knockout” genes-genes that have been disabled by mutations. Their work, published as four papers in the 25 March 2015 issue of the journal Nature Genetics, has yielded new insights about the common human ancestor for the male Y chromosome-narrowed to somewhere between 174,000 and 321,000 years ago-based on their latest calculation of human mutation rates. The milestone in genome sequencing comes from deCODE Genetics, a biopharmaceutical company in Reykjavík, Iceland. It also sets the stage for a new era of preventive medicine based on individual genetic risks for diseases such as cancer and Alzheimer’s disease. The new wealth of genetic data has already begun changing our understanding of human evolutionary history. Fast forward 1000 years to today, when an Icelandic company has revealed its success in sequencing the largest-ever set of human genomes from a single population. When the first Viking explorers began settling Iceland, none could have imagined that their descendants would pioneer the future of modern medicine by surveying the human genome. ![]()
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