Researchers Complete Updated Map Of Human Genome
Posted on: Wednesday, 7 October 2009, 15:50 CDT
An international research team has issued the most updated map of changes to the structure of human genomes.
Writing in the journal Nature, researchers said the new map should provide others with a better approach to fighting human diseases.
Researchers also reported the identification of 75 so-called “jumping genes,” which are defined as regions of human genomes that can be found in more than one location.
They used data compiled through scanning and comparing genomes of 450 people of European, African or East Asian descent.
"The study is more than 10 times as powerful as our first map, published three years ago and much more detailed than any other," said Matt Hurles from the Wellcome Trust Sanger Institute.
“Importantly, we have also assigned the CNVs to a specific genetic background so that they can be readily examined in disease studies carried out by others, such as the Wellcome Trust Case Control Consortium.”
CNVs, or copy number variants, are segments of human genomic code that might be deleted or multiplied in different people.
Researchers found that any two genomes differ by more than 1000 CNVs, or about 0.8 percent. Most of these CNVs are deletions, with only a few being duplications.
"Nevertheless, we have not found large numbers of common CNVs that we can tie strongly to disease,” said Hurles. “There remains much to be discovered and much to understand and our freely available genotyped collection will drive that discovery."
"This paper detailing common CNVs in different world populations, and providing the first glimpse into evolutionary biology of such class of human variation, is unquestionably one of the most important advances in human genome research since the completion of a reference human genome," said Professor James R. Lupski, Vice Chair of the department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
"It complements the cataloguing of single nucleotide variation delineated in the HapMap Project and will both enable some new approaches to, and further augment other studies of, basic human biology relevant to health and disease."
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Source: RedOrbit Staff & Wire Reports
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