Lin, Honghuang
Mayo Clinic
Framingham Heart Study, National Heart, Lung, and Blood Institute, National Institutes of Health and Boston University, Framingham, MA, USA.
Citations 2
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
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Science | July 16, 2026 | Volume: 393 | Issue: 6808 | Pages: No page available
Most genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequencing samples from the Trans-Omics for Precision Medicine program and performed expression and splicing quantitative trait locus (e/sQTL) analyses in six tissues and cell types, including whole blood ( n = 6454) and lung ( n = 1291). We detected tens of thousands of secondary cis-e/sQTLs, showing that secondary cis-e/sQTL discovery remains unsaturated. We fine-mapped UK Biobank–derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs. Our results suggest that even larger e/sQTL analyses will uncover additional secondary e/sQTLs, further benefiting GWAS interpretation.
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke
Auer, Paul L. , Nalls, Mike A., Worrall, Bradford B. , Longstreth, W.T. , Seshadri, Sudha , Burger, Kathleen, Carlson, Christopher S. , Carty, Cara L. , Chen, Wei‐Min , Cupples, L. Adrienne , DeStefano, Anita L. , Fornage, Myriam , Hardy, John , Jackson, Rebecca D. , Jarvik, Gail P. , Kim, Daniel Seung , Lakshminarayan, Kamakshi , Lange, Leslie A., Manichaikul, Ani , Quinlan, Aaron R. , Singleton, Andrew , Thornton, Timothy, Nickerson, Deborah A. , Peters, Ulrike , Rich, Stephen S. , Franceschini, Nora , Padmanabhan, Sandosh , Caan, Bette J. , Akey, Joshua M. , Liu, Dajiang J. , Ballantyne, Christie M. , Bustamante, Carlos D. , Lin, Honghuang , Meschia, James F. , Kooperberg, Charles , Hsu, Li , Rich, Stephen S , Seshadri, Sudha , Jarvik, Gail P , Hardy, John , Ballantyne, Christie M , Manichaikul, Ani W , Padmanabhan, Sandosh , Caan, Bette J , Lin, Honghuang
JAMA Neurology | May 11, 2015 | Volume: 72 | Issue: 7 | Pages: 781