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Science ; 374(6569): eabj1541, 2021 Nov 12.
Artículo en Inglés | MEDLINE | ID: covidwho-1526448

RESUMEN

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.


Asunto(s)
Proteínas Sanguíneas/genética , Enfermedad/genética , Genoma Humano , Genómica , Proteínas/genética , Proteoma , Envejecimiento , Empalme Alternativo , Proteínas Sanguíneas/metabolismo , COVID-19/genética , Enfermedades del Tejido Conjuntivo/genética , Enfermedad/etiología , Desarrollo de Medicamentos , Femenino , Cálculos Biliares/genética , Estudios de Asociación Genética , Variación Genética , Estudio de Asociación del Genoma Completo , Humanos , Internet , Masculino , Fenotipo , Proteínas/metabolismo , Sitios de Carácter Cuantitativo , Caracteres Sexuales
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