Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects.

medRxiv 2023

Wang H, Dombroski BA, Cheng PL

Abstract

  1. medRxiv [Preprint]. 2023 Sep 13:2023.09.13.23295505. doi: 10.1101/2023.09.13.23295505.

Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer’s Diseases Sequencing Project Subjects.

Wang H(1)(2), Dombroski BA(1)(2), Cheng PL(1)(2), Tucci A(3), Si YQ(3), Farrell JJ(4), Tzeng JY(3), Leung YY(1)(2), Malamon JS(5); Alzheimer’s Disease Sequencing Project; Wang LS(1)(2), Vardarajan BN(6)(7), Farrer LA(4)(8)(9)(10)(11), Schellenberg GD(1)(2), Lee WP(1)(2).

Author information: (1)Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA. (2)Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA. (3)Bioinformatics Research Center, North Carolina State University, NC 27695, USA. (4)Department of Medicine (Biomedical Genetics), Boston University School of Medicine, MA 02118, USA. (5)Department of Surgery, Scholl of Medicine, University of Colorado, CO 80045, USA. (6)Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, NY 10032, USA. (7)Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, NY 10032, USA. (8)Department of Neurology, Boston University School of Medicine, MA 02118, USA. (9)Department of Ophthalmology, Boston University School of Medicine, MA 02118, USA. (10)Department of Biostatistics, Boston University School of Public Health, MA 02118, USA. (11)Department of Epidemiology, Boston University School of Public Health, MA 02118, USA.

Update in Alzheimers Dement. 2025 Jun;21(6):e70277. doi: 10.1002/alz.70277.

Structural variations (SVs) are important contributors to the genetics of numerous human diseases. However, their role in Alzheimer’s disease (AD) remains largely unstudied due to challenges in accurately detecting SVs. Here,

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