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Record W4411414167 · doi:10.1038/s41588-024-02045-6

Author Correction: GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia

2025· erratum· en· W4411414167 on OpenAlexaff
Lincoln M. P. Shade, Yuriko Katsumata, Erin L. Abner, Khine Zin Aung, Steven A. Claas, Qi Qiao, Bernardo Aguzzoli Heberle, J. Anthony Brandon, Madeline L. Page, Timothy J. Hohman, Shubhabrata Mukherjee, Richard Mayeux, Lindsay A. Farrer, Gerard Schellenberg, Jonathan L. Haines, Walter A. Kukull, Kwangsik Nho, Andrew J. Saykin, Julie A. Schneider, Mark Ebbert, Peter T. Nelson

Bibliographic record

VenueNature Genetics · 2025
Typeerratum
Languageen
FieldEnvironmental Science
TopicHealth, Environment, Cognitive Aging
Canadian institutionsUniversity of Toronto
FundersNational Institute on Aging
KeywordsNeuropathologyEndophenotypeGenome-wide association studyBiologyDementiaGenetic architectureNeuroscienceGeneticsComputational biologyQuantitative trait locusSingle-nucleotide polymorphismDiseaseMedicineCognitionInternal medicineGeneGenotype

Abstract

fetched live from OpenAlex

After publication of the article, several collaborators helpfully pointed out issues with genetic variant ID harmonization and effect allele coding errors, each affecting a subset of variants used in our study. The authors regret these errors and have updated the manuscript and summary statistics to correct them. Most results reported in the manuscript were not materially affected by this; however, the lead variant in the reported PIK3R5 locus associated with Braak neurofibrillary tangle (NFT) stage no longer reached genome-wide significance after correction (now P = 1.3 × 10 –7 ). Furthermore, the known Alzheimer’s Disease and related dementias (ADRD) loci CELF1/SPI1 (Braak NFT stage and CERAD score) and TMEM106B (Braak NFT stage) now reach the FDR significance threshold for association with at least one additional neuropathology endophenotype (NPE). Other results, namely P values, effect sizes and colocalization probabilities have minor changes and have been corrected throughout. Several minor typos are now also corrected. We also corrected all tables and figures based on genome-wide association study (GWAS) summary statistics. The Supplementary Information accompanying this amendment shows a detailed list of all updates. All changes discussed are reflected in the HTML and PDF versions of the article.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.303
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0000.000

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 head0.007
GPT teacher head0.241
Teacher spread0.234 · 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 teacher head, not a consensus.

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

Citations0
Published2025
Admission routes1
Has abstractyes

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