Experts has a new look! Let us know what you think of the updates.

Provide feedback
Home
Scholarly Works
Do common in silico tools predict the clinical...
Journal article

Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?

Abstract

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 missense mutations against the …

Authors

Dorfman R; Nalpathamkalam T; Taylor C; Gonska T; Keenan K; Yuan X; Corey M; Tsui L; Zielenski J; Durie P

Journal

Clinical Genetics, Vol. 77, No. 5, pp. 464–473

Publisher

Wiley

Publication Date

May 2010

DOI

10.1111/j.1399-0004.2009.01351.x

ISSN

0009-9163