Article
cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.
Nature methods - 1 Feb 2026
Van Buren Eric, Zhang Yi, Li Xihao, Selvaraj Margaret Sunitha, Li Zilin, Zhou Hufeng, Palmer Nicholette D, Arnett Donna K, Blangero John, Boerwinkle Eric, Cade Brian E, Carlson Jenna C, Carson April P, Chen Yii-Der Ida, Curran Joanne, Duggirala Ravindranath, Fornage Myriam, Franceschini Nora, Graff Misa, Gu Charles, Guo Xiuqing, He Jiang, Heard-Cosa Nancy, Hou Lifang, Hung Yi-Jen, Kalyani Rita R, Kardia Sharon L R, Kenny Eimear, Kooperberg Charles, Kral Brian G, Lange Leslie, Levy Dan, Li Changwei, Liu Simin, Lloyd-Jones Donald, Loos Ruth J F, Manichaikul Ani W, Martin Lisa Warsinger, Mathias Rasika, Minster Ryan L, Mitchell Braxton D, Mychaleckyj Josyf C, Naseri Take, North Kari, O'Connell Jeff, Perry James A, Peyser Patricia A, Psaty Bruce M, Raffield Laura M, Vasan Ramachandran S, Redline Susan, Reiner Alex P, Rich Stephen S, Smith Jennifer A, Spitzer Brian, Tang Hua, Taylor Kent D, Tracy Russell, Viali Satupa'itea, Yanek Lisa, Zhao Wei, Rotter Jerome I, Peloso Gina M, Natarajan Pradeep, Lin Xihong
Abstract excerpt
Understanding how rare genetic variants influence complex traits remains a major challenge, particularly when these variants lie in noncoding regions of the genome. The effects of variants within candidate cis-regulatory elements (cCREs) often depend on the cell type, making interpretation difficult. Here we introduce cellSTAAR, which integrates whole-genome sequencing data with single-cell assay for...
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