Copy Machines

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To hear Charles Lee, a Harvard Medical School cytogeneticist, tell it, he and his colleagues came upon the notion of copy-number variants more or less by accident.

Not that researchers hadn't previously noticed these genetic elements — roughly defined as DNA segments occurring in different numbers across different genomes. In the early 1990s, for instance, Baylor College of Medicine professor James Lupski explored the role of CNVs in Charcot-Marie-Tooth neuropathy, identifying duplications linked to the most common form of the disorder.

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