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Personalized diagnosis by cached solutions with hypertension as a study model
P.C. Carvalho1,4*, S.S. Freitas2*, A.B. Lima3, M. Barros3, I. Bittencourt3, W. Degrave4,
I. Cordovil3, R. Fonseca5, M.G.C. Carvalho6, R.S. Moura Neto7 and P.H. Cabello2
*Both authors contributed equally to this study.
1Programa de Engenharia de Sistemas e Computação, COPPE,
Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil
2Departamento de Genética Humana, Instituto Oswaldo Cruz, Rio de Janeiro, RJ, Brasil
3Instituto Nacional de Cardiologia, Laranjeiras, RJ, Brasil
4Laboratório de Genômica Funcional e Bioinformática, Fiocruz, Rio de Janeiro, RJ, Brasil
5Departamento de Ciência da Computação, Universidade Federal de Juiz de Fora,
Juiz de Fora, MG, Brasil
6Laboratório do Controle da Expressão Gênica, Instituto de Biofísica Carlos Chagas Filho,
UFRJ, Rio de Janeiro, RJ, Brasil
7Departamento de Genética Humana, Universidade Federal do Rio de Janeiro,
Rio de Janeiro, RJ, Brasil
Corresponding author: P.C. Carvalho
E-mail: carvalhopc@cos.ufrj.br
Genet. Mol. Res. 5 (4): 856-867 (2006)
Received May 22, 2006
Accepted September 18, 2006
Published December 18, 2006

ABSTRACT. Statistical modeling of links between genetic profiles with environmental and clinical data to aid in medical diagnosis is a challenge. Here, we present a computational approach for rapidly selecting important clinical data to assist in medical decisions based on personalized genetic profiles. What could take hours or days of computing is available on-the-fly, making this strategy feasible to implement as a routine without demanding great computing power. The key to rapidly obtaining an optimal/nearly optimal mathematical function that can evaluate the “disease stage” by combining information of genetic profiles with personal clinical data is done by querying a precomputed solution database. The database is previously generated by a new hybrid feature selection method that makes use of support vector machines, recursive feature elimination and random sub-space search. Here, to evaluate the method, data from polymorphisms in the renin-angiotensin-aldosterone system genes together with clinical data were obtained from patients with hypertension and control subjects. The disease “risk” was determined by classifying the patients’ data with a support vector machine model based on the optimized feature; then measuring the Euclidean distance to the hyperplane decision function. Our results showed the association of renin-angiotensin-aldosterone system gene haplotypes with hypertension. The association of polymorphism patterns with different ethnic groups was also tracked by the feature selection process. A demonstration of this method is also available online on the project’s web site.

Key words: Genetic polymorphisms, Essential hypertension, Evironmental risks, Support vector machines, Feature selection

 

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