Whole Genomes on the Rise

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James Lupski participated in the 1986 Molecular Biology of Homo sapiens meeting at Cold Spring Harbor Laboratory, during which the initial discussions arose over whether researchers should sequence the entire human genome. Twenty-two years later, he was part of the team that deciphered the first personal genome sequence, that of the CSHL meeting organizer — and co-discoverer of the structure of DNA — James Watson. And now Lupski is the lead author on the first study ever to use next-generation whole-genome sequencing to identify the cause of a Mendelian disease: his own.

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