deCODE Genetics, a global leader in analyzing and understanding the human genome, has published online, on March 25, 2015, in Nature Genetics, four landmark papers built on whole-genome sequence data from more than 100,000 people from across the country of Iceland. The studies, written by a team of deCODE scientists, when taken together, present the most detailed portrait of a population yet assembled using the latest technology for reading DNA. "This work is a demonstration of the unique power sequencing gives us for learning more about the history of our species and for contributing to new means of diagnosing, treating, and preventing disease," said Kari Stefansson, M.D., Founder and CEO of deCODE, and senior author on the four Nature Genetics papers. "It also shows how a small population such as ours, with the generous participation of the majority of its citizens, can advance science and medicine worldwide. In that sense, this is very much more than a molecular national ‘selfie.’ We're contributing to important tools for making more accurate diagnostics for rare diseases; finding new risk factors and potential drug targets for diseases like Alzheimer's; and even showing how the Y chromosome, a loner in the paired world of our genome, repairs itself as it passes from father to son. Other countries are now preparing to undertake their own large-scale sequencing projects, and I would tell them the rewards are great," Dr. Stefansson concluded. The four Nature Genetics papers and their highlights are described below.
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