Last updated:
Author(s):
Ghislain Rocheleau, Iain S. Forrest, Áine Duffy, Shantanu Bafna, Amanda Dobbyn, Marie Verbanck, Hong-Hee Won, Daniel M. Jordan, Ron Do
Publish date:
20 August 2022
Journal:
Communications Biology
PubMed ID:
35987940

Abstract

Phenome-wide association studies identified numerous loci associated with traits and diseases. To help interpret these associations, we constructed a phenome-wide network map of colocalized genes and phenotypes. We generated colocalized signals using the Genotype-Tissue Expression data and genome-wide association results in UK Biobank. We identified 9151 colocalized genes for 1411 phenotypes across 48 tissues. Then, we constructed bipartite networks using the colocalized signals in each tissue, and showed that the majority of links were observed in a single tissue. We applied the biLouvain clustering algorithm in each tissue-specific network to identify co-clusters of genes and phenotypes. We observed significant enrichments of these co-clusters with known biological and functional gene classes. Overall, the phenome-wide map provides links between genes, phenotypes and tissues, and can yield biological and clinical discoveries.

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Institution:
Icahn School of Medicine at Mount Sinai, United States of America

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