Author

D. Fardo

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Open access Sep 2026

Rare extreme polygenic risk scores strongly indicate Alzheimer’s disease risk

Background. Alzheimer's disease (AD) pathology often accumulates years before memory loss, creating a need to identify high-risk individuals presymptomatically. Polygenic risk scores (PRS) stratify AD risk, but individual-level predictions remain uncertain. Extreme PRS may identify high-risk individuals independent of...

Elizabeth L. Ward, Peter T. Nelson, Y. Katsumata et al. · medRxiv · 0 citations

Open access Sep 2026

Alzheimer’s Polygenic Risk Scores Are Not Interchangeable: Evidence from 1,752 Models

Introduction: Polygenic risk scores (PRS) may improve Alzheimer's disease (AD) risk prediction before symptom onset, yet choosing an appropriate model can be challenging. Methods: Using the standardized GenoPred pipeline, 1,752 PRS models (9 algorithms; 584 configurations; 3 genome-wide association studies) were evalua...

Elizabeth L. Ward, Peter T. Nelson, Y. Katsumata et al. · medRxiv · 0 citations

Open access Jul 2026

Systematic contextual biases in SegmentNT potentially relevant to other nucleotide transformer models

It is demonstrated that nucleotide position within the input sequence alters the nature of SegmentNT’s raw prediction probabilities, which can be standardized to improve prediction consistency and identify potential approaches to account for these biases.

M. Ebbert, Anna Ho, Madeline L. Page et al. · Nucleic Acids Research · 0 citations