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Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications

Year: 2026
Type: article
Abstract: ), while TBX19, PLXNB2, CARD11, and LINC01880 remained significantly associated with cognitively healthy status. We identified and addressed the computational limitations in the STAAR framework that could lead to potential spurious results for ultra-rare variant aggregates with an extremely low cumulative minor-allele count. Our proposed refinements produced more robust results for associations with rare variants in the context of dichotomous outcomes.
DOI: 10.1016/j.xhgg.2026.100574
Authors: Dongyu Wang, Sabrina Abbruzzese, Nancy Heard-Costa, Andy Rampersaud, Eden Martin, Adam Naj, Bilcag Akgun, Brian Kunkle, Sudha Seshadri, Gina Peloso, Anita L. DeStefano, Zilin Li, Xihao Li, Seung Hoan Choi
Institutions: Boston University, Framingham Heart Study, University of Miami, University of Pennsylvania, The University of Texas at San Antonio Health Science Center, Northeast Normal University, University of North Carolina at Chapel Hill
Language: English
Subfield: Genetics
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W7124990260
FWCI: 3.797
Cites: 44
Cited by: 1
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