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

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

1,†
, 2,†
, 3,* , 2,*  and 1,*
Received: 8 April 2014; in revised form: 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
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

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.

AMA Style

Kucukkal TG, Yang Y, Chapman SC, Cao W, Alexov E. Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics. International Journal of Molecular Sciences. 2014; 15(6):9670-9717.

Chicago/Turabian Style

Kucukkal, Tugba G.; Yang, Ye; Chapman, Susan C.; Cao, Weiguo; Alexov, Emil. 2014. "Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics." Int. J. Mol. Sci. 15, no. 6: 9670-9717.



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