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Cracking the code of 1000 (make that 1092!) genomes

The international 1000 Genomes Project is an effort to catalog human genetic variation. The group, which includes Stanford geneticist Carlos Bustamante, PhD, published their latest results today in Nature. The scientists focused their efforts on 1092 individuals from four distinct geographic areas: Europe, Africa, East Asia and the Americas. As I wrote in our release:

The researchers found that the relative prevalence of rare and common variants can differ widely between specific populations. For example, a rare genetic change (defined as those found in fewer than 0.5 percent of samples) linked to disease in one population is not likely to occur in another, and even more-common genetic variants (occurring in 1 to 2 percent of samples) may not be shared among populations in different parts of the world.

Eryn Brown of the Los Angeles Times reports:

Having such a “dense catalog” of DNA variants should help researchers figure out what genetic variations correlate with disease, said Carlos Bustamante, a geneticist at Stanford Medical School and a participant in the project.  In the future, when researchers sequence the genome of a person with, say, diabetes, they’ll be able to compare the variations they find in that subject’s DNA to the 1000 Genomes reference genomes to do a sort of “first-level check” — to begin to figure out if a particular genetic difference is or isn't the cause of the disease.

“You can now ask, has anyone seen this mutation before?” Bustamante said, adding that “if a variation is common, it’s unlikely that it underlies” a rare disease trait.

Bustamante is one of hundreds of authors of the study, which demanded large collaborative groups for both data collection and research. He and his colleagues at Stanford and the University of California, San Francisco, urged the inclusion of populations from the Americas (Puerto Rico, Colombians, African Americans and Mexican Americans ) when they learned that the original plan focused on Europe, Africa and East Asia.

Previously: Roots of disease may vary with ancestry, according to Stanford geneticist, Hispanic and Latino genetic backgrounds diverse, yet telling and Mexican-American, African-American genomes sequenced.
Photo by Luz Adriana Villa A.

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