Article
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.
Human mutation - 1 Oct 2007
Cotton R G H, Auerbach A D, Brown A F, Carrera P, Christodoulou J, Claustres M, Compton J, Cox D W, De Baere E, den Dunnen J T, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert D W, Verma I, Vihinen M
Abstract excerpt
Researchers and clinicians ideally need instant access to all the variation in their gene/locus of interest to efficiently conduct their research and genetic healthcare to the highest standards. Currently much key data resides in the laboratory books or patient records around the world, as there...
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