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Record W4407584561 · doi:10.21203/rs.3.rs-5926137/v1

Genomics of diffusion-imaging integrating GWAS, exome data and single-cell sequencing unravels lifespan determinants of cerebral small vessel disease

2025· preprint· en· W4407584561 on OpenAlexaff
Stéphanie Debette, Yasaman Saba, Hideaki Suzuki, Pauline Maillard, Rick M. Tankard, Michelle Luciano, Ilana Caro, Neda Jahanshad, Marco Duering, Frauke Beyer, Wenjia Bai, Martina Glavan, Quentin Le Grand, Alexander Teumer, Hervé Lemaître, Muralidharan Sargurupremraj, Marie‐Gabrielle Duperron, Hieab H.H. Adams, Hugo J. Aparicio, Konstantinos Arfanakis, Nicola J. Armstrong, Nick Bryan, Mark E. Bastin, Alexa Beiser, David A. Bennett, Ravi R. Bhatt, Guillaume Bourque, Henry Brodaty, Sven Cichon, Ian J. Deary, Christian Enzinger, Lars Forsberg, Piyush Gampawar, Rebecca F. Gottesman, V Gudmundsdottir, Mohamad Habes, Tsuyoshi Hachiya, Edith Hofer, Justine Hsu, M. Arfan Ikram, Mohammad Imtiaz, Tasfiya Islam, Jiyang Jiang, Takahisa Kawaguchi, Kengo Kinoshita, Maria J. Knol, Alexandra Koch, You Kojima, Mark Lathrop, Sue E. Leurgans, Fumihiko Matsuda, Naoko Mori, Ikuko N. Motoike, Shunji Mugikura, Ilya M. Nasrallah, Talia M. Nir, Yash Patel, James Prendergast, José R. Romero, Perminder S. Sachdev, Claudia L. Satizábal, Markus Scholz, Kevin N. Sheth, Jean Shin, Sigurður Sigurðsson, Anbupalam Thalamuthu, Julian N. Trollor, Ami Tsuchida, Arno Villringer, Joanna M. Wardlaw, Wei Wen, Jingyun Yang, Qiong Yang, Menglei Zhang, Alyssa H. Zhu, Thomas W. Mühleisen, Karen A. Mather, Ron Do, Zdenka Pausová, Philip L. De Jager, Fabrice Crivello, Svenja Caspers, A. Veronica Witte, Christophe Tzourio, Hagen Tilgner, Nenad Šestan, Gennady V. Roshchupkin, T. Paus, Sudha Seshadri, Myriam Fornage, Charles DeCarli, Lenore J. Launer, Helena Schmidt, Vilmundur Guðnason, Paul M. Matthews, Monique M.B. Breteler, Aniket Mishra

Bibliographic record

VenueResearch Square · 2025
Typepreprint
Languageen
FieldMedicine
TopicAcute Ischemic Stroke Management
Canadian institutionsUniversité de MontréalCentre Hospitalier Universitaire Sainte-JustineUniversity of TorontoMcGill Genome CentreMcGill University
Fundersnot available
KeywordsExome sequencingGenomicsGenome-wide association studyExomeComputational biologyDiseaseBiologyNeuroscienceGenomeMedicineGeneticsPathologyGeneSingle-nucleotide polymorphismPhenotype

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)0.001
metaresearch head score (Gemma)0.005
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.005
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.101
GPT teacher head0.369
Teacher spread0.268 · 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

Citations0
Published2025
Admission routes1
Has abstractno

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