The largest-ever study of whole genome data revealed an entire genetic "portrait" of the people of Iceland.
The data included more than 10,000 people from across Iceland, and the findings could even provide insight into the root causes of certain diseases, deCODE Genetics reported. The analysis could help lead to more accurate diagnostic methods and uncover previously unknown risk facts and drug targets for rare diseases.
"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, founder and CEO of deCODE and lead author on the papers.
The groundbreaking study demonstrates how deCODE can use comprehensive national genealogies to look at the genome of an entire population. In the past, researchers have "knocked out" genes in mice to see how these changes could potentially influence human health. This new technique could allow scientists to identify genes that have been knocked out in humans due to rare mutations.
The research used over 50,000 years of male lineage to uncover detailed information of the mutation rate in the male sex chromosome. This information could be used as an "evolutionary clock" to help date events that have occurred throughout history. The study results show the most recent common ancestor of all of the Y chromosomes existed about 239,000 years ago, which is about 100,000 years more recent than past estimates have suggested.
Finally, the study identified "loss-of-function variants in ABCA7 confer risk of Alzheimer's disease" which is a powerful new risk factor that is believed to be present in a number of countries across Europe.
The findings were published in a recent edition of the journal Nature Genetics.
