Article
Clinical assessment incorporating a personal genome.
Lancet (London, England) - 1 May 2010
Ashley Euan A, Butte Atul J, Wheeler Matthew T, Chen Rong, Klein Teri E, Dewey Frederick E, Dudley Joel T, Ormond Kelly E, Pavlovic Aleksandra, Morgan Alexander A, Pushkarev Dmitry, Neff Norma F, Hudgins Louanne, Gong Li, Hodges Laura M, Berlin Dorit S, Thorn Caroline F, Sangkuhl Katrin, Hebert Joan M, Woon Mark, Sagreiya Hersh, Whaley Ryan, Knowles Joshua W, Chou Michael F, Thakuria Joseph V, Rosenbaum Abraham M, Zaranek Alexander Wait, Church George M, Greely Henry T, Quake Stephen R, Altman Russ B
Abstract excerpt
BACKGROUND: The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context. METHODS: We assessed a patient with a family history of vascular disease and early sudden death. Clinical assessment included analysis of this patient's full genome sequence, risk...
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