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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
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  Data: <searchLink fieldCode="AU" term="%22Liu+C%22">Liu C</searchLink>; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA. liuc@bu.edu.; Framingham Heart Study, Framingham, MA, USA. liuc@bu.edu.<br /><searchLink fieldCode="AU" term="%22Joehanes+R%22">Joehanes R</searchLink>; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. roby.joehanes@nih.gov.<br /><searchLink fieldCode="AU" term="%22Ma+J%22">Ma J</searchLink>; Nutrition Epidemiology and Data Science, Friedman School of Nutrition Science and Policy, Tufts University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Xie+J%22">Xie J</searchLink>; Physiology and Pathophysiology, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Yang+J%22">Yang J</searchLink>; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wang+M%22">Wang M</searchLink>; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Huan+T%22">Huan T</searchLink>; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hwang+SJ%22">Hwang SJ</searchLink>; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wen+J%22">Wen J</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Sun+Q%22">Sun Q</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Demirkale+CY%22">Demirkale CY</searchLink>; Critical Care Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Heard-Costa+NL%22">Heard-Costa NL</searchLink>; Framingham Heart Study, Framingham, MA, USA.; Departments of Neurology, Boston University Schools of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Orchard+P%22">Orchard P</searchLink>; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Carson+AP%22">Carson AP</searchLink>; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.<br /><searchLink fieldCode="AU" term="%22Haessler+JW%22">Haessler JW</searchLink>; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Raffield+LM%22">Raffield LM</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Reiner+AP%22">Reiner AP</searchLink>; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Franceschini+N%22">Franceschini N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Auer+PL%22">Auer PL</searchLink>; Division of Biostatistics, Data Science Institute and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Kooperberg+C%22">Kooperberg C</searchLink>; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22O'Connor+G%22">O'Connor G</searchLink>; Framingham Heart Study, Framingham, MA, USA.; Pulmonary Center, Boston University School of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Murabito+JM%22">Murabito JM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Munson+P%22">Munson P</searchLink>; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Levy+D%22">Levy D</searchLink>; 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.
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