Name
Title | ||
|---|---|---|
Integrating domain knowledge with statistical and data mining methods for high-density genomic SNP disease association analysis. |
Abstract | ||
|---|---|---|
Genome-wide association studies can help identify multi-gene contributions to disease. As the number of high-density genomic markers tested increases, however, so does the number of loci associated with disease by chance. Performing a brute-force test for the interaction of four or more high-density genomic loci is unfeasible given the current computational limitations. Heuristics must be employed to limit the number of statistical tests performed. In this paper we explore the use of biological domain knowledge to supplement statistical analysis and data mining methods to identify genes and pathways associated with disease. We describe Pathway/SNP, a software application designed to help evaluate the association between pathways and disease. Pathway/SNP integrates domain knowledge--SNP, gene and pathway annotation from multiple sources--with statistical and data mining algorithms into a tool that can be used to explore the etiology of complex diseases. |
Year | DOI | Venue |
|---|---|---|
2007 | 10.1016/j.jbi.2007.06.002 | Journal of Biomedical Informatics |
Keywords | Field | DocType |
disease association analysis,genome-wide association gwa,domain knowledge-snp,single nucleotide polymorphisms (snp),pathway-based disease association,statistical analysis,statistical test,false discovery rate fdr,single nucleotide polymorphisms snp,high-density genomic locus,high-density genomic,integrating domain knowledge,biological domain knowledge,complex disease,data mining,data mining method,genome-wide association study,data mining algorithm,data integration,genome-wide association (gwa),false discovery rate (fdr),association analysis,domain knowledge,single nucleotide polymorphism,genome wide association,false discovery rate,data integrity,genome wide association study | Data integration,Data mining,Disease,Annotation,Domain knowledge,Computer science,Heuristics,Genetic association,SNP,Statistical hypothesis testing | Journal |
Volume | Issue | ISSN |
40 | 6 | 1532-0480 |
Citations | PageRank | References |
7 | 1.22 | 4 |
Authors | ||
3 | ||
Name | Order | Citations | PageRank |
|---|---|---|---|
| Valentin Dinu | 1 | 85 | 10.68 |
| Hongyu Zhao | 2 | 850 | 89.39 |
| P L Miller | 3 | 445 | 93.86 |