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Updated: Jun 3, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
An ANN model for the identification of deleterious nsSNPs in tumor suppressor genes
Unlabelled:
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.
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