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A Statistical Framework for Powerful Multi-Trait Rare Variant Analysis in Large-Scale Whole-Genome Sequencing Studies

Xihao Li,Han Chen,Margaret Sunitha Selvaraj,Eric Van Buren,Hufeng Zhou,Yuxuan Wang,Ryan Sun,Zachary R McCaw,Zhi Yu,Min-Zhi Jiang,Daniel DiCorpo,Sheila M Gaynor,Rounak Dey,Donna K Arnett,Emelia J Benjamin,Joshua C Bis,John Blangero,Eric Boerwinkle,Donald W Bowden,Jennifer A Brody,Brian E Cade,April P Carson,Jenna C Carlson,Nathalie Chami,Yii-Der Ida Chen,Joanne E Curran,Paul S de Vries,Myriam Fornage,Nora Franceschini,Barry I Freedman,Charles Gu,Nancy L Heard-Costa,Jiang He,Lifang Hou,Yi-Jen Hung,Marguerite R Irvin,Robert C Kaplan,Sharon L R Kardia,Tanika N Kelly,Iain Konigsberg,Charles Kooperberg,Brian G Kral,Changwei Li,Yun Li,Honghuang Lin,Ching-Ti Liu,Ruth J F Loos,Michael C Mahaney,Lisa W Martin,Rasika A Mathias,Braxton D Mitchell,May E Montasser,Alanna C Morrison,Take Naseri,Kari E North,Nicholette D Palmer,Patricia A Peyser,Bruce M Psaty,Susan Redline,Alexander P Reiner,Stephen S Rich,Colleen M Sitlani,Jennifer A Smith,Kent D Taylor,Hemant K Tiwari,Ramachandran S Vasan,Satupa'itea Viali,Zhe Wang,Jennifer Wessel,Lisa R Yanek,Bing Yu, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,Josée Dupuis,James B Meigs,Paul L Auer,Laura M Raffield,Alisa K Manning,Kenneth M Rice,Jerome I Rotter,Gina M Peloso,Pradeep Natarajan,Zilin Li,Zhonghua Liu,Xihong Lin

Nature computational science（2025）

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关键词
Gene Set Enrichment Analysis,Genomic Data Integration,Haplotype Mapping,Polygenic Risk Scores
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