Computational SNP Analysis: Current Approaches and Future Prospects

被引:50
作者
Kumar, Ambuj [1 ]
Rajendran, Vidya [1 ]
Sethumadhavan, Rao [1 ]
Shukla, Priyank [2 ]
Tiwari, Shalinee [2 ]
Purohit, Rituraj [1 ,3 ]
机构
[1] Vellore Inst Technol Univ, Sch Bio Sci & Technol, Bioinformat Div, Vellore 632014, Tamil Nadu, India
[2] Univ Vet Med, Inst Anim Breeding & Genet, Dept Biomed Sci, A-1210 Vienna, Austria
[3] Human Genet Fdn, I-10126 Turin, Italy
基金
奥地利科学基金会;
关键词
nsSNPs; Onco-allele; Oncogene; Molecular dynamics simulation; SINGLE-NUCLEOTIDE POLYMORPHISMS; PROTEIN STABILITY CHANGES; NON-SYNONYMOUS SNPS; DISEASE; MUTATIONS; PREDICTION; NSSNPS; ANNOTATION; SELECTION; SEQUENCE;
D O I
10.1007/s12013-013-9705-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:233 / 239
页数:7
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