SNPs&GO
 
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SNPs&GO
Predicting disease associated variations using GO terms


Sequence File: FA5_HUMAN.seq
Alignment File: FA5_HUMAN.seq.blast
GO-terms File: FA5_HUMAN.seq.go
Output File: output.txt





Mutation
Prediction
RI
Probability
Method

Neutral
5
0.240
PANTHER: F[D]=28% F[H]=5%
 
Neutral
4
0.312
SNPs&GO
 
Neutral
4
0.296
PANTHER: F[I]=25% F[T]=3%
 
Disease
7
0.835
SNPs&GO
 
Disease
0
0.510
PANTHER: F[C]=32% F[R]=1%
 
Disease
8
0.895
SNPs&GO
 
Neutral
10
0.068
SNPs&GO



Mutation: WT+POS+NEW
    WT: Residue in wild-type protein
    POS: Residue position
    NEW: New residue after mutation

Prediction:
    Neutral: Neutral variation
    Disease: Disease associated variation

RI: Reliability Index

Probability: Disease probability (if >0.5 mutation is predicted Disease)

Method: SVM type and data
    PANTHER: Output of the PANTHER algorithm
    PhD-SNP: SVM input is the sequence and profile at the mutated position
    SNPs&GO: SVM input is all the input in PjD-SNP, PANTHER and GO retms

F[X]: Frequency of residue X in the sequence profile
Nali: Number of aligned sequences in the mutated site
 
 
 
 
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