Researchers have sequenced the whole genomes of 2500 people from Iceland. They have genotyped ~120k Icelanders. They can impute whole genome sequence down to variants with less than 0.1% frequency.

On the plan to sequence all icelanders, to find patterns of disease.

In the trove of data, Decode found rare mutations that dramatically increase the risk for Alzheimer’s, gallstones, atrial fibrillation, and liver and thyroid diseases—mutations that appear to be the result of “knocked out” or missing pieces of DNA. Perhaps most intriguing is the detective work that lies ahead. Decode identified 1171 knocked out genes, present in nearly 8% of the 104K people studied. The next step is to work backward—in the opposite direction one normally goes in genetics research—and cross-reference these knockouts with medical records and phenotypical data and try to determine the impact of these mistakes in nature.

• Uncategorized