Journal
SCIENTIFIC WORLD JOURNAL
Volume -, Issue -, Pages -Publisher
HINDAWI LTD
DOI: 10.1155/2013/675851
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Funding
- National Basic Research Program of China [2012CB316504]
- National High Technology Research and Development Program of China [2012AA020401]
- National Natural Science Foundation of China [61175002, 60805010]
- Tsinghua University Initiative Scientific Research Program
- Tsinghua National Laboratory for Information Science and Technology (TNList) Academic Exchange Foundation
- Open Research Fund of State Key Laboratory of Bioelectronics, Southeast University
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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.
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