Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.

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Title: Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.
Authors: Liu C; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA. liuc@bu.edu.; Framingham Heart Study, Framingham, MA, USA. liuc@bu.edu., Joehanes R; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. roby.joehanes@nih.gov., Ma J; Nutrition Epidemiology and Data Science, Friedman School of Nutrition Science and Policy, Tufts University, Boston, MA, USA., Xie J; Physiology and Pathophysiology, University of Manitoba, Winnipeg, MB, Canada., Yang J; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA., Wang M; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA., Huan T; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Hwang SJ; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Wen J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Sun Q; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Center for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Demirkale CY; Critical Care Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Heard-Costa NL; Framingham Heart Study, Framingham, MA, USA.; Departments of Neurology, Boston University Schools of Medicine, Boston, MA, USA., Orchard P; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Haessler JW; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Reiner AP; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Franceschini N; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Auer PL; Division of Biostatistics, Data Science Institute and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Li Y; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., O'Connor G; Framingham Heart Study, Framingham, MA, USA.; Pulmonary Center, Boston University School of Medicine, Boston, MA, USA., Murabito JM; Framingham Heart Study, Framingham, MA, USA.; Section of General Internal Medicine, Department of Medicine, Boston University Chobanian and Avedisin School of Medicine, Boston Medical Center, Boston, MA, USA., Munson P; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Levy D; Framingham Heart Study, Framingham, MA, USA. levyd@nih.gov.; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. levyd@nih.gov.
Source: Nature communications [Nat Commun] 2025 Nov 22; Vol. 16 (1), pp. 10615. Date of Electronic Publication: 2025 Nov 22.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2041-1723
DOI:10.1038/s41467-025-64336-8