Article
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clinical genetics - 1 May 2010
Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan X W, Corey M, Tsui L-C, Zielenski J, Durie P
Abstract excerpt
Computational methods are used to predict the molecular consequences of amino-acid substitutions on the basis of evolutionary conservation or protein structure, but their utility in clinical diagnosis or prediction of disease outcome has not been well validated. We evaluated three popular computer programs, namely, PANTHER, SIFT and PolyPhen, by comparing the predicted clinical outcomes for a group of known CFTR...
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