期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 15, 期 6, 页码 9670-9717出版社
MDPI
DOI: 10.3390/ijms15069670
关键词
single nucleotide polymorphism (SNP); pathogenic mutation; missense mutations; disease diagnostics; protein stability; protein interactions
资金
- Provost Office, Clemson University, Clemson, SC, USA
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据