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An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes
Human genetic variations primarily result from single nucleotide polymorphisms (SNPs) that occurs approximately every 1000 bases in the overall human population. The non-synonymous SNPs (nsSNPs), lead to amino acid changes in the protein product may account for nearly half of the known genetic varia...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Biomedical Informatics
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064852/ https://www.ncbi.nlm.nih.gov/pubmed/21464845 |
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author | Chandra, Vinod Ramakrishnan, Rejimoan Ramanathan, Shalini |
author_facet | Chandra, Vinod Ramakrishnan, Rejimoan Ramanathan, Shalini |
author_sort | Chandra, Vinod |
collection | PubMed |
description | Human genetic variations primarily result from single nucleotide polymorphisms (SNPs) that occurs approximately every 1000 bases in the overall human population. The non-synonymous SNPs (nsSNPs), lead to amino acid changes in the protein product may account for nearly half of the known genetic variations linked to inherited human diseases and cancer. One of the main problems of medical genetics today is to identify nsSNPs that underlie disease-related phenotypes in humans. An attempt was made to develop a new approach to predict such nsSNPs. This would enhance our understanding of genetic diseases and helps to predict the disease. We detect nsSNPs and all possible and reliable alleles by ANN, a soft computing model using potential SNP information. Reliable nsSNPs are identified, based on the reconstructed alleles and on sequence redundancy. The model gives good results with mean specificity (95.85&), sensitivity (97.40&) and accuracy (96.25&). Our results indicate that ANNs can serve as a useful method to analyze quantitative effect of nsSNPs on protein function and would be useful for large-scale analysis of genomic nsSNP data. AVAILABILITY: The database is available for free at http://www.snp.mirworks.in |
format | Text |
id | pubmed-3064852 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Biomedical Informatics |
record_format | MEDLINE/PubMed |
spelling | pubmed-30648522011-04-04 An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes Chandra, Vinod Ramakrishnan, Rejimoan Ramanathan, Shalini Bioinformation Prediction Model Human genetic variations primarily result from single nucleotide polymorphisms (SNPs) that occurs approximately every 1000 bases in the overall human population. The non-synonymous SNPs (nsSNPs), lead to amino acid changes in the protein product may account for nearly half of the known genetic variations linked to inherited human diseases and cancer. One of the main problems of medical genetics today is to identify nsSNPs that underlie disease-related phenotypes in humans. An attempt was made to develop a new approach to predict such nsSNPs. This would enhance our understanding of genetic diseases and helps to predict the disease. We detect nsSNPs and all possible and reliable alleles by ANN, a soft computing model using potential SNP information. Reliable nsSNPs are identified, based on the reconstructed alleles and on sequence redundancy. The model gives good results with mean specificity (95.85&), sensitivity (97.40&) and accuracy (96.25&). Our results indicate that ANNs can serve as a useful method to analyze quantitative effect of nsSNPs on protein function and would be useful for large-scale analysis of genomic nsSNP data. AVAILABILITY: The database is available for free at http://www.snp.mirworks.in Biomedical Informatics 2011-03-02 /pmc/articles/PMC3064852/ /pubmed/21464845 Text en © 2011 Biomedical Informatics This is an open-access article, which permits unrestricted use, distribution, and reproduction in any medium, for non-commercial purposes, provided the original author and source are credited. |
spellingShingle | Prediction Model Chandra, Vinod Ramakrishnan, Rejimoan Ramanathan, Shalini An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title | An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title_full | An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title_fullStr | An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title_full_unstemmed | An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title_short | An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes |
title_sort | ann model for the identification of deleterious nssnps in tumor suppressor genes |
topic | Prediction Model |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064852/ https://www.ncbi.nlm.nih.gov/pubmed/21464845 |
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