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Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases
The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded am...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572689/ https://www.ncbi.nlm.nih.gov/pubmed/23431257 http://dx.doi.org/10.1155/2013/675851 |
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author | Wu, Jiaxin Jiang, Rui |
author_facet | Wu, Jiaxin Jiang, Rui |
author_sort | Wu, Jiaxin |
collection | PubMed |
description | The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. Therefore, it is of great importance to develop computational approaches to facilitate the discrimination of deleterious nsSNPs from neutral ones. In this paper, we review databases that collect nsSNPs and summarize computational methods for the identification of deleterious nsSNPs. We classify the existing methods for characterizing nsSNPs into three categories (sequence based, structure based, and annotation based), and we introduce machine learning models for the prediction of deleterious nsSNPs. We further discuss methods for identifying deleterious nsSNPs in noncoding variants and those for dealing with rare variants. |
format | Online Article Text |
id | pubmed-3572689 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-35726892013-02-21 Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases Wu, Jiaxin Jiang, Rui ScientificWorldJournal Review Article The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. Therefore, it is of great importance to develop computational approaches to facilitate the discrimination of deleterious nsSNPs from neutral ones. In this paper, we review databases that collect nsSNPs and summarize computational methods for the identification of deleterious nsSNPs. We classify the existing methods for characterizing nsSNPs into three categories (sequence based, structure based, and annotation based), and we introduce machine learning models for the prediction of deleterious nsSNPs. We further discuss methods for identifying deleterious nsSNPs in noncoding variants and those for dealing with rare variants. Hindawi Publishing Corporation 2013-01-30 /pmc/articles/PMC3572689/ /pubmed/23431257 http://dx.doi.org/10.1155/2013/675851 Text en Copyright © 2013 J. Wu and R. Jiang. https://creativecommons.org/licenses/by/3.0/ 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. |
spellingShingle | Review Article Wu, Jiaxin Jiang, Rui Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title | Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title_full | Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title_fullStr | Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title_full_unstemmed | Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title_short | Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases |
title_sort | prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572689/ https://www.ncbi.nlm.nih.gov/pubmed/23431257 http://dx.doi.org/10.1155/2013/675851 |
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