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Int. J. Mol. Sci. 2014, 15(6), 9670-9717; doi:10.3390/ijms15069670

Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics

1
Department of Physics, Clemson University, Clemson, SC 29634, USA
2
Department of Genetics and Biochemistry, Clemson University, 049 Life Sciences Facility, 190 Collins Street, Clemson, SC 29634, USA
3
Department of Biological Sciences, Clemson University, Clemson, SC 29634, USA
These authors contributed equally to this work.
*
Authors to whom correspondence should be addressed.
Received: 8 April 2014 / Revised: 15 May 2014 / Accepted: 16 May 2014 / Published: 30 May 2014
(This article belongs to the collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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Abstract

DNA mutations are the cause of many human diseases and they are the reason for natural differences among individuals by affecting the structure, function, interactions, and other properties of DNA and expressed proteins. The ability to predict whether a given mutation is disease-causing or harmless is of great importance for the early detection of patients with a high risk of developing a particular disease and would pave the way for personalized medicine and diagnostics. Here we review existing methods and techniques to study and predict the effects of DNA mutations from three different perspectives: in silico, in vitro and in vivo. It is emphasized that the problem is complicated and successful detection of a pathogenic mutation frequently requires a combination of several methods and a knowledge of the biological phenomena associated with the corresponding macromolecules.
Keywords: single nucleotide polymorphism (SNP); pathogenic mutation; missense mutations; disease diagnostics; protein stability; protein interactions single nucleotide polymorphism (SNP); pathogenic mutation; missense mutations; disease diagnostics; protein stability; protein interactions
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This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Kucukkal, T.G.; Yang, Y.; Chapman, S.C.; Cao, W.; Alexov, E. Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics. Int. J. Mol. Sci. 2014, 15, 9670-9717.

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