ArticleCell genomics2023
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
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Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
6.2field-weighted citation impact, top 3% of its field
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26 citing papers in PubMed, 30 citations in OpenAlex.
- Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Integration of cell-specific gene expression and chromatin accessibility facilitates localization of neurodegenerative risk in microglia.bioRxiv : the preprint server for biology · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Understanding the genetic imperfections of Lewy body dementia.Molecular neurodegeneration · 2026Review
- High-fidelity rare structural variant detection with HiFiRE3 reduced representation via restriction enzyme ends.bioRxiv : the preprint server for biology · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Defining a tandem repeat catalog and variation clusters for genome-wide analyses.bioRxiv : the preprint server for biology · 2026Article
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- Combined Effect of Toothbrushing and Interdental Cleaning on the Risk of Dementia.Yonsei medical journal · 2026Article
- Genome-wide DNA methylation profiling in COVID-19 positive patients reveals alterations in pathways linked to neurological dysfunction.Clinical epigenetics · 2026Article
- The Impact of Structural Variation on Alzheimer's Disease in the Alzheimer's Disease Sequencing Project.Research square · 2026Article
- Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, and sex differences.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Implications and opportunities regarding biological frameworks in overt and prodromal dementia with Lewy bodies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Structural variants linked to Alzheimer's disease and other common age-related clinical and neuropathologic traits.Genome medicine · 2025Article
- Identifying Structural Variants and Their Contribution to Cardiovascular Disease Risk: The Long and the Short of It.Journal of the American Heart Association · 2025Article
- The rate and spectrum of new mutations in mice inferred by long-read sequencing.Genome research · 2025Article
- A Drosophila model for mechanistic investigation of tau protein spread.Disease models & mechanisms · 2024Article
- Structural variants linked to Alzheimer's Disease and other common age-related clinical and neuropathologic traits.medRxiv : the preprint server for health sciences · 2024Article
- Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins.Journal of human genetics · 2024Article
- SuPreMo: a computational tool for streamlining in silico perturbation using sequence-based predictive models.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
61 authors at 20 institutions in 7 countries.
Karri KaivolaNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Ruth ChiaNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Jinhui DingComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Memoona RasheedNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Masashi FujitaCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA.
Vilas MenonCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA.
Ronald L WaltonDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, USA.
Ryan L CollinsCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Kimberley BillingsleyLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Harrison BrandCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Michael TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Xuefang ZhaoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Ramita DewanNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Ali StarkNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Anindita RayNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Sultana SolaimanNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Pilar Alvarez JerezLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Laksh MalikCentre for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
Ted M DawsonDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Liana S RosenthalDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Marilyn S AlbertDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Olga PletnikovaDepartment of Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, Buffalo, NY, USA.
Juan C TroncosoDepartment of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA.
Mario MasellisCognitive & Movement Disorders Clinic, Sunnybrook Health Sciences Centre, University of Toronto, 1 King's College Circle, Room 2374, Toronto, ON, Canada.
Julia KeithDepartment of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, 1 King's College Circle, Room 2374, Toronto, ON, Canada.
Sandra E BlackDivision of Neurology, Department of Medicine, University of Toronto, Toronto, ON, Canada.
Luigi FerrucciLongitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.
Susan M ResnickLaboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD, USA.
Toshiko TanakaLongitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.
American Genome Center
International LBD Genomics Consortium
International ALS/FTD Consortium
PROSPECT Consortium
Eric TopolScripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.
Ali TorkamaniScripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.
Pentti TienariTranslational Immunology, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Tatiana M ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Mina RytenDepartment of Genetics and Genomic Medicine Research & Teaching, UCL GOS Institute of Child Health, University College London, London, UK.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
John A HardyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Letizia MazziniMaggiore della Carita University Hospital, Novara, Italy.
Sandra D'AlfonsoDepartment of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Cristina MogliaRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Andrea CalvoRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Geidy E SerranoCivin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
Thomas G BeachCivin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
Tanis FermanDepartment of Psychiatry and Psychology, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, USA.
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, USA.
Bradley F BoeveCenter for Sleep Medicine, Mayo Clinic, Rochester, MN, USA.
Zbigniew K WszolekInstitute of Cognitive Sciences and Technologies, C.N.R., Via S. Martino della Battaglia, 44, Rome, Italy.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, USA.
Adriano ChiòRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
David A BennettRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Philip L De JagerCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY, USA.
Owen A RossDepartment of Neuroscience, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, USA.
Clifton L DalgardDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
J Raphael GibbsComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Bryan J TraynorNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Sonja W ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Johns Hopkins University · USNational Institute on Aging · USMayo Clinic in Florida · USAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITHong Kong University of Science and Technology · HKIndiana University School of MedicineScripps Research Institute · USSunnybrook Health Science Centre · CAUniformed Services University of the Health Sciences · USBroad Institute · USNational Hospital for Neurology and Neurosurgery · GBBanner Sun Health Research Institute · USGreat Ormond Street Hospital · GBRush University Medical Center · USUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro” · ITUniversity of Helsinki · FIInstitute of Cognitive Sciences and Technologies · ITMayo Clinic · USNational Institute of Neurological Disorders and Stroke · USUniversity of Massachusetts Chan Medical School · US
Funding
National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BARNES, LISA L · 1991 to 2020
$49.1MUnderstanding Mechanisms of a-synuclein pathologyP50NS038377 · NINDS · JOHNS HOPKINS UNIVERSITY · PI DAWSON, TED M. · 1998 to 2019
$38.8MResearch Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI REIMAN, ERIC MICHAEL · 2001 to 2020
$32.5MResearch Education ComponentP30AG066507 · NIA · JOHNS HOPKINS UNIVERSITY · PI MARILYN S. ALBERT · 2020 to 2026
$29.3MResearch Education ComponentP30AG072980 · NIA · BANNER HEALTH · PI Nicholas Ashton · 2021 to 2026
$24.9MRush Alzheimer's Disease Research CenterP30AG072975 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI Lisa L Barnes, Julie A. Schneider · 2021 to 2026
$24.7MSouth Texas Alzheimer's Disease Research CenterP30AG066546 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Mohamad Habes · 2021 to 2026
$24.0MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MGenetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4MMulti-omic network-directed proteoform discovery, dissection and functional validation to prioritize novel AD therapeutic targetsU01AG061356 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BENNETT, DAVID ALAN, DE JAGER, PHILIP L · 2018 to 2022
$13.7MNational Brain and Tissue Resource for Parkinson's Disease and Related DisordersU24NS072026 · NINDS · BANNER SUN HEALTH RESEARCH INSTITUTE · PI BEACH, THOMAS G · 2011 to 2015
$7.8MIntramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003154NHGRI NIH HHS T32 HG002295NIA NIH HHS K08 AG065463NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG066507NIA NIH HHS P30 AG066546NIA NIH HHS P30 AG072975NIA NIH HHS P30 AG072980NIA NIH HHS RF1 AG057473NIA NIH HHS U01 AG061356NIA NIH HHS U24 AG021886NINDS NIH HHS P50 NS038377NINDS NIH HHS R35 NS127253NINDS NIH HHS U24 NS072026
Abstract
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in
Indexed as
amyotrophic lateral sclerosiscase-control studyfrontotemporal dementiagenome-wide association studyLewy body dementianon–Alzheimer's dementiaresourcestructural variant
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