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Record W3133996942 · doi:10.2139/ssrn.3307650

A Nonsynonymous Mutation in PLCG2 Reduces the Risk of Alzheimer's Disease, Dementia with Lewy-Bodies and Frontotemporal Dementia, and Increases the Likelihood of Longevity

2018· article· en· W3133996942 on OpenAlexaff
Sven J. van der Lee, Olivia J. Conway, Iris E. Jansen, Minerva M. Carrasquillo, Luca Kleineidam, Erik B. van den Akker, Kristel R. van Eijk, Najada Stringa, Jason Chen, Anna Zettergren, Till F. M. Andlauer, Mónica Díez-Fairén, Javier Simón‐Sánchez, Henrik Zetterberg, Marianne Nygaard, Cornelis Blauwendraat, Jeanne E. Savage, Jonas Mengel‐From, Sonia Moreno–Grau, Michael Wagner, Juan Fortea, Michael J. Keogh, Kaj Blennow, Ingmar Skoog, Manuel A. Friese, Olga Pletnikova, Miren Zulaica, Carmen Lage, Itziar de Rojas, Steffi G. Riedel‐Heller, Ignacio Illán‐Gala, Wei Wei, Bernard Jeune, Adela Orellana, Florian Then Bergh, Xue Wang, Marc Hulsman, Nina Beker, Christopher M. Morris, Lyduine E. Collij, Martin Scherer, James W. Ironside, Bart N.M. van Berckel, Daniel Alcolea, Heinz Wiendl, Samantha L. Strickland, Pau Pástor, Alzheimer Disease European DNA Biobank, RiMod-FTD Rsk and Modifying factors in Fronto-Temporal Dementia, Bradley F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Jay A. van Gerpen, Marcel Reinders, Ryan J. Uitti, Lluís Tárraga, Wolfgang Maier, Oriol Dols‐Icardo, Amit Kawalia, Carolina Dalmasso, Uwe K. Zettl, Natasja M. van Schoor, Marian Beekman, Mariet Allen, Eliezer Masliah, Adolfo López de Munain, Alexander Pantelyat, Zbigniew K. Wszołek, Owen A. Ross, Dennis W. Dickson, Caroline Graff, David S. Knopman, Rosa Rademakers, Afina W. Lemstra, Yolande A.L. Pijnenburg, Philip Scheltens, Thomas Gasser, Patrick F. Chinnery, Bernhard Hemmer, Martijn Huisman, Juan C. Troncoso, Fermín Moreno, Ellen A. Nøhr, Thorkild I. A. Sørensen, Peter Heutink, Daniëlle Posthuma, Giovanni Coppola, Kaare Christensen, Sonja W. Scholz, Alfredo Ramı́rez, Agustı́n Ruiz, P. Eline Slagboom, Wiesje M. van der Flier, Henne Holstege

Bibliographic record

VenueSSRN Electronic Journal · 2018
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsTrinity College
Fundersnot available
KeywordsDementia with Lewy bodiesFrontotemporal dementiaDementiaDiseaseNonsynonymous substitutionMedicineAlzheimer's diseasePsychologyPsychiatryGeneticsBiologyPathologyGene

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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 score0.004
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0040.000

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 head0.010
GPT teacher head0.270
Teacher spread0.260 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine 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

Citations26
Published2018
Admission routes1
Has abstractno

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