Eye-brain connections revealed by multimodal retinal and brain imaging genetics

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: July 18, 2024

Abstract The retina, an anatomical extension of the brain, forms physiological connections with visual cortex brain. Although retinal structures offer a unique opportunity to assess brain disorders, their relationship structure and function is not well understood. In this study, we conducted systematic cross-organ genetic architecture analysis eye-brain using imaging endophenotypes. We identified novel phenotypic links between biomarkers measures from multimodal magnetic resonance (MRI), many associations involving primary pathways. Retinal shared influences diseases complex traits in 65 genomic regions, 18 showing overlap MRI traits. Mendelian randomization suggests bidirectional causal neurological neuropsychiatric such as Alzheimer’s disease. Overall, our findings reveal basis for connections, suggesting that images can help uncover risk factors disorders disease-related changes intracranial function.

Language: Английский

PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 10, 2025

Polygenic risk scores (PRS) are becoming increasingly vital for prediction and stratification in precision medicine. However, PRS model training presents significant challenges broader adoption of PRS, including limited access to computational resources, difficulties implementing advanced methods, availability privacy concerns over individual-level genetic data. Cloud computing provides a promising solution with centralized data resources. Here we introduce PennPRS ( https://pennprs.org ), scalable cloud platform online We developed novel pseudo-training algorithms multiple methods ensemble approaches, enabling without requiring These were rigorously validated through extensive simulations large-scale real analyses involving 6,000 phenotypes across various sources. supports single- multi-ancestry seven allowing users upload their own or query from more than 27,000 datasets the GWAS Catalog, submit jobs, download trained models. Additionally, applied our pipeline train models 8,000 made weights publicly accessible. In summary, improve accessibility applications reduce disparities resources global research community.

Language: Английский