2006
DOI: 10.1093/nar/gkl707
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Analysis of protein sequence and interaction data for candidate disease gene prediction

Abstract: Linkage analysis is a successful procedure to associate diseases with specific genomic regions. These regions are often large, containing hundreds of genes, which make experimental methods employed to identify the disease gene arduous and expensive. We present two methods to prioritize candidates for further experimental study: Common Pathway Scanning (CPS) and Common Module Profiling (CMP). CPS is based on the assumption that common phenotypes are associated with dysfunction in proteins that participate in th… Show more

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Cited by 145 publications
(115 citation statements)
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“…For this reason, any reference to interactions between genes in this paper refers to the interactions between their products. Existing methods can be classified into two main categories; (i) localized methods, i.e., methods based on direct interactions and shortest paths between known disease genes and candidate genes [3,7,13], (ii) global methods, i.e., methods that model the information flow in the cell to assess the proximity and connectivity between known disease genes and candidate genes. Several studies show that global approaches, such as random walk and network propagation, clearly outperform local approaches [10,11].…”
Section: Background and Motivationmentioning
confidence: 99%
“…For this reason, any reference to interactions between genes in this paper refers to the interactions between their products. Existing methods can be classified into two main categories; (i) localized methods, i.e., methods based on direct interactions and shortest paths between known disease genes and candidate genes [3,7,13], (ii) global methods, i.e., methods that model the information flow in the cell to assess the proximity and connectivity between known disease genes and candidate genes. Several studies show that global approaches, such as random walk and network propagation, clearly outperform local approaches [10,11].…”
Section: Background and Motivationmentioning
confidence: 99%
“…For example, POCUS (Turner et al 2003) searches candidate genes by identifying an enrichment of keywords associated with GO, shared InterPro domains (Mulder et al 2005) and expression profiles among a given set of susceptibility loci relative to the genome at large. Moreover, the Common Pathway Scanning (CPS) applies network data derived from protein-protein interaction (PPI) and pathway databases to identify relationships between genes as well as the Common Module Profiling (CMP) identifies likely candidates using a domain-dependent sequence similarity approach, based on the hypothesis that disruption of genes of similar function will lead to the same phenotype (George et al 2006).…”
Section: Introductionmentioning
confidence: 99%
“…Several techniques uncovers gene-disease associations taking an integrative approach, leveraging Gene Ontology annotations [1][2][3][4][5][6], genes expression [7][8],protein sequences [9], biological pathways [4], Bio-text mining [10][11], and transcription factor binding sites [4] and several phenotypic traits of diseases.…”
Section: Introductionmentioning
confidence: 99%