Project compared eight peoples’ genomes and identified 525 segments of DNA previously unknown, according to Nature paper.

Investigators report completing the first sequence-based map of structural variations in the human genome. The project involved sequencing the genomes of eight people: four individuals of African descent, two of Asian descent, and two of European background.


The researchers created a clone map, taking multiple copies of each of the eight genomes and breaking them into numerous segments of about 40,000 base pairs, which they then fit back together based on the human reference genome.


The investigators identified 1,695 regions of structural variation in the genome. They also provided a detailed look at the sequence for 261 regions of the genome. Furthermore, their research also identified 525 segments of DNA that were previously unknown, report the scientists.


“The sequences we identified range in size from a few thousand to hundreds of thousands of base pairs and are not part of the published human genome reference sequence,” explains the project’s leader, Dr. Evan Eichler, Ph.D., University of Washington associate professor of genome sciences and an investigator for the Howard Hughes Medical Institute. “We found that many of these are highly variable in copy and content between individuals.”


Investigators involved in the study also came from Agencourt Bioscience, Agilent Technologies, Washington University School of Medicine, NHGRI, University of Wisconsin, Broad Institute of MIT and Harvard, and Illumina. The results of the research will appear in the May 1 issue of Nature.

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