The computational approaches in determining disease-associated Non-synonymous single nucleotide polymorphisms (nsSNPs) have evolved very rapidly. Large number of deleterious and disease-associated nsSNP detection tools have been developed in last decade showing high prediction reliability. Despite of all these highly efficient tools, we still lack the accuracy level in determining the genotype–phenotype association of predicted nsSNPs. Furthermore, there are enormous questions that are yet to be computationally compiled before we might talk about the prediction accuracy. Earlier we have incorporated molecular dynamics simulation approaches to foster the accuracy level of computational nsSNP analysis roadmap, which further helped us to determine the changes in the protein phenotype associated with the computationally predicted disease-associated mutation. Here we have discussed on the present scenario of computational nsSNP characterization technique and some of the questions that are crucial for the proper understanding of pathogenicity level for any disease associated mutations.
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Non-synonymous single nucleotide polymorphism
Molecular dynamics simulation
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We (AK, VR, RS & RP) gratefully acknowledge the management of Vellore Institute of Technology University for providing the facilities to carry out this work. PS acknowledges financial support by the Austrian Science Fund (FWF, Grant SFB-28). All authors thank the anonymous reviewers for their helpful comments and critical reading of the manuscript.
Conflict of interest
Authors have no potential conflict of interest to disclose.
Ambuj Kumar and Vidya Rajendran are the joint first authors.
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Kumar, A., Rajendran, V., Sethumadhavan, R. et al. Computational SNP Analysis: Current Approaches and Future Prospects. Cell Biochem Biophys 68, 233–239 (2014). https://doi.org/10.1007/s12013-013-9705-6
- Molecular dynamics simulation