Title
Mining Genome Variation to Associate Disease with Transcription Factor Binding Site Alteration
Abstract
During the Post Genome Era, Single Nucleotide Polymorphism (SNP) analysis becomes the crossroad of bioinformatics, bioengineering and human health care. We have developed a data mining system, rSNP_Guide, http://wwwmgs.bionet.nsc.ru/mgs/systems/rsnp/, devoted to predict the transcription factor (TF) binding sites on DNA, alterations of which are associated with disease. rSNP_Guide formalizes the disease-referred experimental data on the alterations in the DNA binding to unknown TF, estimates the abilities of the DNA with mutations associated with disease to bind to each known TF's examined so that to separate one of them, which TF site is altered by the mutations in the best consistence with that of the unknown TF experimentally associated with diseases. The rSNP_Guide has been control tested on the SNP's with known site-disease relationships. Two TF sites associated with diseases were predicted and confirmed experimentally, namely: GATA site in K-ras gene (lung tumor) and YY1 site in TDO2 gene (mental disorders).
Year
DOI
Venue
2001
10.1109/BIBE.2001.974424
BIBE
Keywords
Field
DocType
biomedical engineering,genomics,transcription factor binding site,testing,dna,bioinformatics,data mining,transcription factor,genetics,binding site,single nucleotide polymorphism
Genome,Gene,Binding site,YY1,DNA binding site,Biology,DNA,Single-nucleotide polymorphism,Bioinformatics,Genetics,Transcription factor
Conference
ISBN
Citations 
PageRank 
0-7695-1423-5
0
0.34
References 
Authors
6
6
Name
Order
Citations
PageRank
Julia V. Ponomarenko125724.02
Tatyana I. Merkulova211412.70
Galina Orlova3387.54
Elena Gorshkova4112.35
Oleg N. Fokin5183.19
Mikhail P Ponomarenko613127.97