Literature DB >> 23852834

Computational SNP analysis: current approaches and future prospects.

Ambuj Kumar1, Vidya Rajendran, Rao Sethumadhavan, Priyank Shukla, Shalinee Tiwari, Rituraj Purohit.   

Abstract

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.

Mesh:

Year:  2014        PMID: 23852834     DOI: 10.1007/s12013-013-9705-6

Source DB:  PubMed          Journal:  Cell Biochem Biophys        ISSN: 1085-9195            Impact factor:   2.194


  22 in total

1.  Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.

Authors:  Anna D Cunningham; Alexandre Colavin; Kerwyn Casey Huang; Daria Mochly-Rosen
Journal:  Cell Rep       Date:  2017-03-14       Impact factor: 9.423

2.  High-Risk Polymorphisms Associated with the Molecular Function of Human HMGCR Gene Infer the Inhibition of Cholesterol Biosynthesis.

Authors:  Keshob Chandra Das; Mohammad Uzzal Hossain; Md Moniruzzaman; Md Salimullah; Sharif Akhteruzzaman
Journal:  Biomed Res Int       Date:  2022-06-06       Impact factor: 3.246

3.  In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein.

Authors:  Tahirah Yasmin
Journal:  PLoS One       Date:  2022-07-05       Impact factor: 3.752

4.  Impact of point mutation P29S in RAC1 on tumorigenesis.

Authors:  Vidya Rajendran; Chandrasekhar Gopalakrishnan; Rituraj Purohit
Journal:  Tumour Biol       Date:  2016-10-03

5.  Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Authors:  Diego Hepp; Gislene Lopes Gonçalves; Thales Renato Ochotorena de Freitas
Journal:  PLoS One       Date:  2015-03-20       Impact factor: 3.240

6.  A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Authors:  Wenwen Zhang; Min Zhou; Cheng Liu; Chen Liu; Tong Qiao; Dian Huang; Feng Ran; Wei Wang; Changjian Liu; Zhao Liu
Journal:  Biomed Res Int       Date:  2015-06-29       Impact factor: 3.411

7.  Molecular dynamic simulation reveals damaging impact of RAC1 F28L mutation in the switch I region.

Authors:  Ambuj Kumar; Vidya Rajendran; Rao Sethumadhavan; Rituraj Purohit
Journal:  PLoS One       Date:  2013-10-16       Impact factor: 3.240

Review 8.  AKT kinase pathway: a leading target in cancer research.

Authors:  Ambuj Kumar; Vidya Rajendran; Rao Sethumadhavan; Rituraj Purohit
Journal:  ScientificWorldJournal       Date:  2013-11-13

9.  Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.

Authors:  Devroop Sarkar; Kunal Ray; Mainak Sengupta
Journal:  Biomed Res Int       Date:  2014-05-06       Impact factor: 3.411

10.  An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Authors:  Lucy Gossage; Douglas E V Pires; Álvaro Olivera-Nappa; Juan Asenjo; Mark Bycroft; Tom L Blundell; Tim Eisen
Journal:  Hum Mol Genet       Date:  2014-06-26       Impact factor: 6.150

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