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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga, Sara Sáez-Atiénzar, Regina H. Reynolds, Emil K. Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Mónica Díez-Fairén, Makayla Portley, Zalak Shah, Yevgeniya Abramzon, Dena Hernández, Cornelis Blauwendraat, David J. Stone, John D. Eicher, Laura Parkkinen, Olaf Ansorge, Lorraine N. Clark, Lawrence S. Honig, Karen Marder, Afina W. Lemstra, Peter St George‐Hyslop, Elisabet Londos, Kevin Morgan, Tammaryn Lashley, Thomas T. Warner, Zane Jaunmuktane, Douglas Galasko, Isabel Santana, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Nigel J. Cairns, John C. Morris, Glenda M. Halliday, Vivianna M. Van Deerlin, John Q. Trojanowski, Maurizio Grassano, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C. Bohannan, Francesca Brett, Ziv Gan‐Or, Joshua T. Geiger, Anni Moore, Patrick May, Rejko Krüger, David S. Goldstein, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, Anthony R. Sotis, Gauthaman Sukumar, Camille Alba, Nathaniel M. Lott, Elisa McGrath Martinez, Meila Tuck, Jatinder Singh, Dagmar Bačíková, Xijun Zhang, Daniel Hupalo, Adelani Adeleye, Matthew D. Wilkerson, Harvey B. Pollard, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann, Vikram G. Shakkottai, Matthew Perkins, Kathy L. Newell, Thomas Gasser, Claudia Schulte, Francesco Landi, Erika Salvi, Daniele Cusi, Eliezer Masliah, Ronald C. Kim, Chad A. Caraway, Edwin S. Monuki, Maura Brunetti, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Margaret E. Flanagan, Qinwen Mao, Eileen H. Bigio, Eloy Rodríguez‐Rodríguez, Jon Infante, Carmen Lage, Isabel González Aramburu, Pascual Sánchez‐Juan, Bernardino Ghetti, Julia Keith, Sandra E. Black, Mario Masellis, Ekaterina Rogaeva, Charles Duyckaerts, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Matthew J. Barrett, Bension S. Tilley, Steve Gentleman, Giancarlo Logroscino, Geidy E. Serrano, Thomas G. Beach, Ian G. McKeith, Alan Thomas, Johannes Attems, Christopher M. Morris, Seth Love, Claire Troakes, Safa Al‐Sarraj, Angela Hodges, Dag Aarsland, Gregory Klein, Scott M. Kaiser, Randy Woltjer, Pau Pástor, Lynn M. Bekris, James B. Leverenz, Lilah M. Besser, Amanda Kuzma, Alan E. Renton, Alison Goate, David A. Bennett, Clemens R. Scherzer, Huw R. Morris, Raffaele Ferrari, Diego Albani, Stuart Pickering‐Brown, Kelley Faber, Walter A. Kukull, Estrella Morenas‐Rodríguez, Alberto Lleó, Juan Fortea, Daniel Alcolea, Jordi Clarimón, Mike A. Nalls, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Tatiana Foroud, Caroline Graff, Zbigniew K. Wszołek, Tanis J. Ferman, Bradley F. Boeve, John Hardy, Eric J. Topol, Ali Torkamani, Andrew Singleton, Mina Ryten, Dennis W. Dickson, Adriano Chiò, Owen A. Ross, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz
Bibliographic record
VenueNature Genetics · 2021
Typearticle
Languageen
FieldNeuroscience
TopicNeurological diseases and metabolism
Canadian institutionsHeart and Stroke FoundationSunnybrook Health Science CentreOccupational Cancer Research CentreHealth Sciences CentreMcGill UniversityMontreal Neurological Institute and HospitalUniversity of Toronto
FundersAdministration for Native AmericansTakeda Pharmaceuticals U.S.A.National Human Genome Research InstituteDemensförbundetNational Heart, Lung, and Blood InstituteNational Institute of Neurological Disorders and StrokeDepartment of Medicine, University of TorontoKing's College LondonCentre National de la Recherche ScientifiqueEuropean Regional Development FundNational Center for Advancing Translational SciencesMedical Research CouncilUniversity at BuffaloNational Institutes of HealthInstituto de Investigación Marqués de ValdecillaH. Lundbeck A/SUniversity of BristolIdorsia PharmaceuticalsJohns Hopkins UniversityCentro de Investigación Biomédica en Red sobre Enfermedades NeurodegenerativasImperial College LondonUniversity of TorontoInstitut National de la Santé et de la Recherche MédicaleParkinson's UKCharles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. LouisNewcastle UniversityNational Institute on AgingNational Institute for Health and Care ResearchBiogenAgence Nationale de la RechercheSol Goldman Charitable TrustAmerican Parkinson Disease AssociationConsortium canadien en neurodégénérescence associée au vieillissementProthenaNorthwestern UniversitySunnybrook Research InstituteLittle Family FoundationCenter for Individualized Medicine, Mayo ClinicInstitute of Psychiatry, Psychology and Neuroscience, King’s College LondonLewy Body Dementia AssociationWellcome TrustFeinberg School of MedicineVirginia Commonwealth UniversityEli Lilly and CompanySorbonne UniversitéTheravance Biopharma USU.S. Department of Health and Human ServicesFoundation for the National Institutes of Health
KeywordsBiologyGenetic architectureComputational biologyLewy bodyGenome-wide association studyGeneticsGenomeDNA sequencingDementiaEvolutionary biologyGeneQuantitative trait locusDiseaseSingle-nucleotide polymorphismGenotype
Abstract
OpenAlex records an abstract for this work, but it could not be fetched just now.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.005
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.014
GPT teacher head0.247
Teacher spread0.233 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations481
Published2021
Admission routes2
Has abstractyes