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...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1155/2013/675851 |
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| _version_ | 1832551318693085184 |
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| author | Jiaxin Wu Rui Jiang |
| author_facet | Jiaxin Wu Rui Jiang |
| author_sort | Jiaxin Wu |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-64538bf3e6e34e1eb94668f551046fa7 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-64538bf3e6e34e1eb94668f551046fa72025-02-03T06:01:44ZengWileyThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/675851675851Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human DiseasesJiaxin Wu0Rui Jiang1MOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST/Department of Automation, Tsinghua University, Beijing 100084, ChinaMOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST/Department of Automation, Tsinghua University, Beijing 100084, ChinaThe 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.http://dx.doi.org/10.1155/2013/675851 |
| spellingShingle | Jiaxin Wu Rui Jiang Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases The Scientific World Journal |
| 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 |
| url | http://dx.doi.org/10.1155/2013/675851 |
| work_keys_str_mv | AT jiaxinwu predictionofdeleteriousnonsynonymoussinglenucleotidepolymorphismforhumandiseases AT ruijiang predictionofdeleteriousnonsynonymoussinglenucleotidepolymorphismforhumandiseases |