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Mapping the proteo-genomic convergence of human diseases
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作者 maik pietzner 《四川生理科学杂志》 2023年第8期1466-1466,共1页
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-anchor... 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. 展开更多
关键词 convergence. HIGHLIGHTS LIKELY
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