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Mapping the proteo-genomic convergence of human diseases

Pietzner, M; Wheeler, E; Carrasco-Zanini, J; Cortes, A; Koprulu, M; Woerheide, MA; Oerton, E; ... Langenberg, C; + view all (2021) Mapping the proteo-genomic convergence of human diseases. Science , 374 (6569) , Article eabj1541. 10.1126/science.abj1541. Green open access

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Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3892 plasma proteins to create a cis-anchored gene-protein-disease map of 1859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to connect etiologically related diseases, to provide biological context for new or emerging disorders, and to integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at loci identified in genome-wide association studies, thereby addressing a major barrier to experimental validation and clinical translation of genetic discoveries.

Type: Article
Title: Mapping the proteo-genomic convergence of human diseases
Open access status: An open access version is available from UCL Discovery
DOI: 10.1126/science.abj1541
Publisher version: https://doi.org/10.1126/science.abj1541
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: https://discovery.ucl.ac.uk/id/eprint/10141879
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