期刊
TRENDS IN GENETICS
卷 28, 期 7, 页码 323-332出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2012.03.004
关键词
pathway analysis; gene set; enrichment methods; genome-wide association study; functional annotation; complex diseases
资金
- Indiana University Medical Scientist Training Program [NIGMS GM077229-02]
- National Science Foundation [IIS-1117335]
- National Institutes of Health [AG024904, AG032984, AG036535, AG10133, AG19771, LM010098, LM009012, AI59694]
- Direct For Computer & Info Scie & Enginr
- Div Of Information & Intelligent Systems [1117965] Funding Source: National Science Foundation
Genome-wide data sets are increasingly being used to identify biological pathways and networks underlying complex diseases. In particular, analyzing genomic data through sets defined by functional pathways offers the potential of greater power for discovery and natural connections to biological mechanisms. With the burgeoning availability of next-generation sequencing, this is an opportune moment to revisit strategies for pathway-based analysis of genomic data. Here, we synthesize relevant concepts and extant methodologies to guide investigators in study design and execution. We also highlight ongoing challenges and proposed solutions. As relevant analytical strategies mature, pathways and networks will be ideally placed to integrate data from diverse -omics sources to harness the extensive, rich information related to disease and treatment mechanisms.
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