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Article

Integrating electronic health records and GWAS summary statistics to predict the progression of autoimmune diseases from preclinical stages.

Nature communications - 2 Jan 2025

Wang Chen, Markus Havell, Diwadkar Avantika R, Khunsriraksakul Chachrit, Carrel Laura, Li Bingshan, Zhong Xue, Wang Xingyan, Zhan Xiaowei, Foulke Galen T, Olsen Nancy J, Liu Dajiang J, Jiang Bibo

Abstract excerpt

Autoimmune diseases often exhibit a preclinical stage before diagnosis. Electronic health record (EHR) based-biobanks contain genetic data and diagnostic information, which can identify preclinical individuals at risk for progression. Biobanks typically have small numbers of cases, which are not sufficient to construct accurate polygenic risk scores (PRS). Importantly, progression and case-control phenotypes may...

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Identifiers

PMID: 39747168
DOI: 10.1038/s41467-024-55636-6
PMCID: PMC11695684

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