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Cold Spring Harb Protoc. 2011 Sep 1;2011(9). pii: pdb.top065581. doi: 10.1101/pdb.top065581.

Gene set analysis and network analysis for genome-wide association studies.


The application of high-throughput genotyping in humans has yielded numerous insights into the genetic basis of human phenotypes and an unprecedented amount of genetic data. Genome-wide association studies (GWAS) have increased in number in recent years, but the variants that have been found have generally explained only a tiny proportion of the estimated genetic contribution to phenotypic variation. This article summarizes the progress made in the development of gene set analysis (GSA) and network analysis for GWAS was a way to identify the underlying molecular processes of human phenotypes. It also highlights some promising findings and indicates future directions that may greatly enhance the analysis and interpretation of GWAS.

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