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Disease hunting with whole genome sequences: the good news, and the bad news : Genetic Future
Lupski, J.R., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine advance online 10.1056/nejmoa0908094 Roach, J.C., & et al. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science : 10.1126/science.1186802 Two new papers out today - the first ever studies to employ whole-genome sequencing
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