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Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network

Bolan Linghu1, Evan S Snitkin1, Zhenjun Hu1, Yu Xia12 and Charles DeLisi1*

Author affiliations

1 Bioinformatics Program, Boston University, 24 Cummington Street, Boston, MA 02215, USA

2 Department of Chemistry, Boston University, 590 Commonwealth Avenue, Boston, MA 02215, USA

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Citation and License

Genome Biology 2009, 10:R91  doi:10.1186/gb-2009-10-9-r91

Published: 3 September 2009


We integrate 16 genomic features to construct an evidence-weighted functional-linkage network comprising 21,657 human genes. The functional-linkage network is used to prioritize candidate genes for 110 diseases, and to reliably disclose hidden associations between disease pairs having dissimilar phenotypes, such as hypercholesterolemia and Alzheimer's disease. Many of these disease-disease associations are supported by epidemiology, but with no previous genetic basis. Such associations can drive novel hypotheses on molecular mechanisms of diseases and therapies.