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Advancing Genetics on a Global Scale


SALT LAKE CITY – University of Utah researchers and Utah residents are playing key roles in the success of the 1000 Genomes Project, an international research effort to establish the largest and most comprehensive resource on human genetic variation. Using advanced technologies that make genome sequencing faster and less expensive, the 1000 Genomes Project now has completed sequencing for the genomes of more than 1,000 individuals from 14 populations across the globe, including 100 Utah residents, according to an article published in the Nov. 1, 2012 issue of Nature.

"To date, the 1000 Genomes Project is the largest study of human genetic variation using whole genome sequencing," says Lynn Jorde, Ph.D.,professor and chair of human genetics at the University of Utah and a co-author on the study. "As part of the global 1000 Genomes Project team, I'm proud to say that people from Utah, both researchers and residents, are actively contributing to the advancement of genetic research."

The 1000 Genomes Project was launched in 2008 with the goal of sequencing the genomes of a large, diverse group of people around the world. Genome sequencing allows researchers to identify and compare genetic variations among the genomes of different individuals, families, ethnic groups, and populations, which helps to provide an accurate picture of how similar and different people are, as well as how people are related. Building a large database of genome sequences also creates a valuable tool for understanding genetic contributions to disease.

According to this new study, the 1000 Genomes Project has now sequenced the genomes of 1,092 individuals from 14 populations in Europe, East Asia, sub-Saharan Africa, and the Americas. One hundred of these genome samples are from Utah residents, who have been participating in global genetic research for more than 30 years. The full plan for the 1000 Genomes Project is to sequence approximately 2,500 genome samples. The project's detailed genome map is accessible to both the scientific community and the general public through a free online database.

"Essentially, the 1000 Genomes Project is creating a bank of normal genetic variation," says Jorde. "Using this bank, scientists now have a baseline not only for studying the associations between genetic variations and human diseases, but also for distinguishing disease-causing variants from ones that simply occur infrequently in the general population."

The 1000 Genomes Project comprises a collaboration of scientists from leading research institutes around the world, including the United Kingdom, China, and the United States. As a member of the project's sample selection committee, Jorde assisted with selecting the populations to be studied to ensure a systematic sampling of global human diversity. He and his University of Utah colleagues also contributed to the project's research on mobile elements, genes that have the ability to move around within the genome. Mobile elements make up approximately 50 percent of our DNA. They represent a major factor in shaping changes to the genome and have been linked to genetic diseases such as hemophilia.

"The genome is extremely dynamic. Over time, genes can move from one chromosome to another and they can even be entirely lost from the genome in the span of a generation," says Jorde. "The more we learn about the scope and frequency of genetic variation, the better we can understand the genetic basis for human diseases."