Jonathan Sebat led a 2004 study demonstrating widespread large-scale copy number variation in the human genome. Comparing genomic DNA by hybridization detected regions whose copy numbers differed among individuals; many differences were inherited.[ref]
A person can therefore differ from another not only at individual nucleotides, but also in how many copies of a substantial DNA segment are present. Comparing signal intensities supplied evidence for dosage differences that sequence substitutions alone would miss. The result helped make structural variation a routine part of questions about human genetic diversity.
Portrait of Jonathan Sebat
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