A comparative study of structural variant calling in WGS from Alzheimer's disease families.

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Title: A comparative study of structural variant calling in WGS from Alzheimer's disease families.
Authors: Malamon JS; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Farrell JJ; Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine, Boston University, Boston, MA, USA., Xia LC; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA., Dombroski BA; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Das RG; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Way J; Broad Institute, Massachusetts Institute of Technology, Cambridge, MA, USA., Kuzma AB; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Valladares O; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Leung YY; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Scanlon AJ; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Lopez IAB; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Brehony J; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Worley KC; Human Genome Sequencing Center, and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang NR; Department of Statistics, The Wharton School, University of Pennsylvania, Philadelphia, PA, USA., Wang LS; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Farrer LA; Biomedical Genetics Section, Department of Medicine, Boston University School of Medicine, Boston University, Boston, MA, USA.; Departments of Neurology and Ophthalmology, Boston University School of Medicine, Boston University, Boston, MA, USA.; Departments of Epidemiology and Biostatistics, Boston University School of Public Health, Boston, MA, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Lee WP; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA wan-ping.lee@pennmedicine.upenn.edu., Vardarajan BN; Gertrude H. Sergievsky Center and Taub Institute of Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA bnv2103@cumc.columbia.edu.
Source: Life science alliance [Life Sci Alliance] 2024 Feb 28; Vol. 7 (5). Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2575-1077
DOI:10.26508/lsa.202302181