Researchers produce first sequence map of large-scale structural variation in human genome

A nationwide team of researchers, funded in part by the National Human Genome Research Institute (NHGRI), one of the National Institutes of Health (NIH), has produced the first sequence-based map of large-scale structural variation across the human genome. The work, published today in the journal Nature, provides a starting point to examine how such DNA variation contributes to human health and disease.

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