Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. In Apr 14 , 2017, Ottavia Spiga and others published an article in << BMC Medical Informatic & Decision Making >> which title is “ApreciseKUre: an approach of Precision Medicine in a Rare Disease”，reported an approach of Precision Medicine in this Rare Disease. They present here a novel ApreciseKUre database facilitating the collection, integration and analysis of patient data in order to create an AKU-dedicated “PM Ecosystem” in which genetic, biochemical and clinical resources can be shared among registered researchers. They also developed an analytic method based on Pearson’s correlation coefficient and P value that generates as refreshable correlation matrix.
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