Publication Details
Predicting Deleterious Single Nucleotide Polymorphism
DNA, protein, SNP (single nucleotide polymorphism)
Human genetic variations are primarily the result of single nucleotide polymorphisms (SNPs) that occur approximately every 1000 bases in the overall human population. In this paper we focus on non-synonymous protein coding single nucleotide polymorphisms (nsSNPs) which can affect protein structure or function. Because of that, nsSNPs are be-lieved to have the largest impact on human health compared with SNPs in other regions (non-protein coding) of the genome. It is also very important to distinguish those nsSNPs that affect protein function from those that are functionally neutral. This article provides an introduction to SNP problematic and an overview of recent used data sources and bioin-formatics methods for prediction deleterious nsSNPs which play significant role in human susceptibility to diseases or drugs.
@INPROCEEDINGS{FITPUB8875,
author = "Petr Ja\v{s}a",
title = "Predicting Deleterious Single Nucleotide Polymorphism",
pages = "408--412",
booktitle = "Proceedings of the 14th Conference STUDENT EEICT 2008, Volume 4",
year = 2008,
location = "Brno, CZ",
publisher = "Faculty of Electrical Engineering and Communication BUT",
ISBN = "978-80-214-3617-6",
language = "english",
url = "https://www.fit.vut.cz/research/publication/8875"
}