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The Scientific World Journal
/
2013
/
Article
/
Tab 2
/
Review Article
Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases
Table 2
Tools for deleterious variant detection.
Method
Website
Features
Method description
Reference ID
SIFT
http://sift.bii.a-star.edu.sg/
Sequence based
Statistical method using PSSM with Dirichlet priors
[
17
]
PolyPhen
http://genetics.bwh.harvard.edu/pph/index.html
Sequence based, structure based, annotation
Rule-based model
[
2
]
SNAP
http://www.rostlab.org/services/SNAP/
Sequence based, annotation
Standard feed-forward neural networks with momentum term
[
1
]
MSRV
http://bioinfo.au.tsinghua.edu.cn/member/ruijiang/english/software.html
Sequence based
Multiple selection rule voting strategy using random forest
[
11
]
LRT
http://www.genetics.wustl.edu/jflab/lrt_query.html
Sequence based
Log ratio test
[
19
]
PolyPhen-2
http://genetics.bwh.harvard.edu/pph2/index.shtml
Sequence based, structure based
Naïve Bayes approach coupled with entropy-based discretization
[
18
]
MutationTaster
http://www.mutationtaster.org/
Sequence based, annotation
Naïve bayes model based on integrated data source
[
5
]
KGGSeq
http://statgenpro.psychiatry.hku.hk/limx/kggseq/
Sequence based, annotation
A three-level framework to combine a number of filtration and prioritization functions
[
23
]
SInBaD
http://tingchenlab.cmb.usc.edu/sinbad/
Sequence based
Separate mathematical models for promoters, exons, and introns, using logistic regression algorithm
[
21
]
GERP (score)
http://mendel.stanford.edu/sidowlab/downloads/gerp/index.html
Sequence based
A “Rejected Substitutions” score computation to infer the constrained region
[
24
]
PhyloP (score)
http://hgdownload.cse.ucsc.edu/goldenPath/hg18/phyloP44way
Sequence based
An exact
value computation under a continuous Markov substitution model
[
10
]