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A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias.

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Title: A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias.
Authors: Cheng PL; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wang H; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Dombroski BA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Farrell JJ; Biomedical Genetics, Department of Medicine, Boston University Medical School, Boston, MA, USA., Horng I; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Chung T; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Tosto G; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, New York, NY 10032, USA., Kunkle BW; John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA; John T. Macdonald Department of Human Genetics, University of Miami, Miami, FL, USA., Bush WS; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA., Vardarajan B; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, New York, NY 10032, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Lee WP; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: wan-ping.lee@pennmedicine.upenn.edu.
Source: HGG advances [HGG Adv] 2025 Oct 09; Vol. 6 (4), pp. 100487. Date of Electronic Publication: 2025 Jul 31.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Cheng+PL%22">Cheng PL</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Dombroski+BA%22">Dombroski BA</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Farrell+JJ%22">Farrell JJ</searchLink>; Biomedical Genetics, Department of Medicine, Boston University Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Horng+I%22">Horng I</searchLink>; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Chung+T%22">Chung T</searchLink>; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Tosto+G%22">Tosto G</searchLink>; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Kunkle+BW%22">Kunkle BW</searchLink>; John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA; John T. Macdonald Department of Human Genetics, University of Miami, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Bush+WS%22">Bush WS</searchLink>; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Vardarajan+B%22">Vardarajan B</searchLink>; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Schellenberg+GD%22">Schellenberg GD</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+WP%22">Lee WP</searchLink>; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: wan-ping.lee@pennmedicine.upenn.edu.
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              Text: 2025 Oct 09
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