2008
DOI: 10.1093/bioinformatics/btn613
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Prioritizing risk pathways: a novel association approach to searching for disease pathways fusing SNPs and pathways

Abstract: Motivation: Complex diseases are generally thought to be under the influence of one or more mutated risk genes as well as genetic and environmental factors. Many traditional methods have been developed to identify susceptibility genes assuming a single-gene disease model ('single-locus methods'). Pathway-based approaches, combined with traditional methods, consider the joint effects of genetic factor and biologic network context. With the accumulation of high-throughput SNP datasets and human biologic pathways… Show more

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Cited by 51 publications
(39 citation statements)
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“…Chen 58 Two step SC PRP: gene association test based on max risk statistic; followed by mean risk for GS. Holmans 13 Two step C ALIGATOR: Fisher's exact testing using SNP with minimum P-value for the gene-level association.…”
Section: Analytical Approachesmentioning
confidence: 99%
“…Chen 58 Two step SC PRP: gene association test based on max risk statistic; followed by mean risk for GS. Holmans 13 Two step C ALIGATOR: Fisher's exact testing using SNP with minimum P-value for the gene-level association.…”
Section: Analytical Approachesmentioning
confidence: 99%
“…After filtering, 789 articles were retained. Furthermore, to analyze disease-related pathways, there were seven studies about PBA for BD GWAS data collected (20,(23)(24)(25)(26)(27)(28). In all, 796 studies were included in BDgene.…”
Section: Literature Search and Data Extractionmentioning
confidence: 99%
“…2 Pathway analysis typically tests the association of a predefined set of related genes, which are often defined by biological knowledge. 3 Although pathway analysis methods have been developed and successfully applied to association studies of common variants, [4][5][6][7][8][9][10][11][12][13][14][15][16][17] the statistical methods for pathway-based association analysis of rare variants have not been well developed. [18][19][20][21] The current methods for pathway-based association analysis of rare variants are classified into two approaches.…”
Section: Introductionmentioning
confidence: 99%