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TitleLarge-scale copy number variations discovered in the human genome
Body
Researchers at Brigham and Women’s Hospital (BWH) and Harvard Medical School (HMS) have found that the content of human DNA and genes, originally thought to be very similar amongst all human beings, significantly differs. This unexpected finding could one day provide researchers with the insight necessary to understand how disease development differs among individuals and could eventually lead to a deeper understanding of how to proactively prevent the development of particular diseases. Based on findings from the Human Genome Project, researchers and scientists believe that the DNA in the human genome - encompassing the total set of genes carried by an individual - was almost identical. When beginning this study, researchers thought that results would confirm that among healthy individuals, 99.9 percent of their analyzed genetic material would be identical. Variations have been known to occur in the form of single base pair changes, however in this study researchers found large-scale variations involving hundreds of thousands of base pairs of DNA. According to the study’s senior author BWH’s Charles Lee, PhD, assistant professor at HMS, “These results represent a discovery - one that helps complete our understanding of the human genome and that could contribute to the better understanding of human disease, including neurological disorders and cancer.”
PDF: BWHPressRoom.pdf
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Date08/01/2004
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