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[Preprint]. 2025 Dec 25:2025.11.25.690514. Originally published 2025 Nov 28. [Version 2] doi: 10.1101/2025.11.25.690514

SuSiE 2.0: improved methods and implementations for genetic fine-mapping and phenotype prediction

Alexander McCreight, Yanghyeon Cho, Ruixi Li, Daniel Nachun, Hao-Yu Gan, Peter Carbonetto, Matthew Stephens, William RP Denault, Gao Wang
PMCID: PMC12699296  PMID: 41394690

Abstract

Sum of Single Effects regression (SuSiE) has become widely adopted for genetic fine-mapping, yet its original implementation faces architectural limitations that hinder extensibility and performance. We present SuSiE 2.0, featuring a modular redesign for extensibility, up to 5x speed improvements for summary statistics applications, and several useful extensions including SuSiE-ash, a new method that improves calibration when strong signals coexist with moderate effects. Simulations and real data benchmarks demonstrate performance across diverse genetic architectures, highlighting improved calibration of SuSiE-ash for fine-mapping under complex polygenic backgrounds with 1.5–3x FDR reduction while maintaining power, and revealing SuSiE-based methods as effective yet underappreciated tools for TWAS prediction.

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