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Multi-omics epigenom-bred associationsstudie×Pathway Enrichment Analysis×
FagområdeBioinformatikBioinformatik
FamilieProcess / pipelineProcess / pipeline
Oprindelsesår2011 (EWAS foundation); multi-omics integration ~2015–20202003–2005
OphavspersonRakyan, Down, Balding & Beck (EWAS framework); multi-omics integration extended by multiple groups (~2015–2020)Mootha et al. (2003); systematised by Subramanian et al. (2005)
TypeIntegrative association studyStatistical functional annotation method
Oprindelig kildeRakyan, V. K., Down, T. A., Balding, D. J., & Beck, S. (2011). Epigenome-wide association studies for common human diseases. Nature Reviews Genetics, 12(8), 529–541. DOI ↗Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., & Mesirov, J. P. (2005). Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences, 102(43), 15545–15550. DOI ↗
Aliassermulti-omics EWAS, integrative EWAS, multi-layer epigenome-wide association, multi-omics epigenomic integrationPEA, overrepresentation analysis, ORA, functional enrichment analysis
Relaterede46
ResuméA multi-omics epigenome-wide association study (multi-omics EWAS) systematically scans the entire epigenome — typically DNA methylation at CpG sites — for associations with a phenotype of interest, then integrates findings across additional omics layers such as transcriptomics, genomics, proteomics, or metabolomics. By linking epigenetic variation to molecular changes at multiple biological levels simultaneously, this approach identifies regulatory mechanisms and biomarkers that single-omics EWAS cannot resolve.Pathway enrichment analysis (PEA) is a statistical approach that takes a list of genes or proteins of interest — typically derived from a differential expression or proteomics experiment — and identifies which pre-defined biological pathways or functional gene sets are represented more often than expected by chance. By mapping individual molecular changes onto curated pathway knowledge bases such as KEGG, Gene Ontology, or Reactome, PEA translates long gene lists into interpretable biological processes, making it a central tool in the post-analysis of high-throughput omics experiments.
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