Accès ouvert
2026
article
OpenAlex
Robyn H. Guymer, Zhichao Wu, Simon S. Gao, Miao Zhang et autres
Purpose Large and lengthy clinical trials are currently required to study the efficacy of interventions aiming to slow the progression of the early stages of age-related macular degeneration (AMD). To enable the design of more feasible trials, an observational study HONU aims …
au
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Accès ouvert
2026
article
OpenAlex
Minna Kraatari‐Tiri, Hina Ishtiaq, Jaakko Tyrmi, Siying Lin et autres
Importance: Substantial unexplained heritability remains for pathogenic inherited retinal disease (IRD) variants. Application of genome-wide association studies (GWAS) could help identify causal genes in rare diseases. Objective: To leverage a GWAS for the discovery of IRD-associated genes. Design, Setting, and Participants: This …
fi, gb, us
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Accès ouvert
2026
preprint
OpenAlex
Luli Zou, Owen Whitley, Hsin-Wei Tseng, Caitlin Simopoulos et autres
Integrating GWAS and single-cell data holds great potential for prioritizing causal disease biology at cellular resolution. Recent integrative approaches typically assess the enrichment of disease genetic signals in cell types or individual cells, without directly modeling disease phenotypes. We develop a new …
us, se
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Accès ouvert
2026
article
OpenAlex
Fiona A. Hagenbeek, Anne Richmond, Max Tamlander, Kira E. Detrois et autres
BACKGROUND: Differences in disease risk are linked to inherited genetic variation and social circumstances, but how these factors jointly relate to multiple diseases is not fully understood. This study investigates the independent and combined associations of genetic predisposition and socioeconomic status with …
fi, nl, gb, us, de
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Accès ouvert
2026
article
OpenAlex
Eemeli S. Tusa, Max Tamlander, Samuli Ripatti, Mika P. Harju et autres
PURPOSE: To investigate the clinical usefulness of a glaucoma polygenic risk score (PRS) for glaucoma by benchmarking published glaucoma PRSs and by assessing how the best-performing PRS performs for assessing glaucoma risk, age at onset, and glaucoma prognosis. DESIGN: Cohort study. PARTICIPANTS: …
fi
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Accès ouvert
2026
article
OpenAlex
Christopher Otieno, Joseph H. Breeyear, Jeewoo Kim, Hannah M. Seagle et autres
Objectives/Goals: Identify genetic variants associated with the development of diabetic retinopathy (DR) and its advanced complication, diabetic macular edema (DME). Despite DME being a leading cause of vision loss among people with diabetes, genetic findings have been limited by small sample size, …
us
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Accès ouvert
2026
article
OpenAlex
Jarkko Toivonen, Jonna Clancy, Aarno Palotie, Mark Daly et autres
BACKGROUND & AIMS: Hereditary hemochromatosis is an autosomal recessive disorder of excessive iron accumulation. Early diagnosis enables treatment before organ damage. The C282Y variant in the HFE gene is the main cause, but its penetrance of only 20% limits its utility for …
fi
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