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Record W2782592927 · doi:10.1126/scitranslmed.aai7795

Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

2018· article· en· W2782592927 on OpenAlexaff
Ken Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manual Rivas, Adam P. Levine, Xiuliang Bao, Philippe Ronel Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena Schiff, Nikolas Pontikos, Nir Barzilai, Steven R. Brant, Susan Bressman, Adam S. Cheifetz, Lorraine N. Clark, Mark J. Daly, Robert J. Desnick, Richard H. Duerr, Seymour Katz, Todd Lencz, Richard H. Myers, Harry Ostrer, Laurie J. Ozelius, Haydeh Payami, Yakov Peter, John D. Rioux, Anthony W. Segal, William K. Scott, Mark S. Silverberg, Jeffery M. Vance, Iban Ubarretxena‐Belandia, Tatiana Foroud, Gil Atzmon, Itsik Pe’er, Yiannis A. Ioannou, Dermot McGovern, Zhenyu Yue, Eric E. Schadt, Judy H. Cho, Inga Peter

Bibliographic record

VenueScience Translational Medicine · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicInflammatory Bowel Disease
Canadian institutionsUniversity of TorontoMount Sinai HospitalUniversité de MontréalMontreal Heart Institute
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Diabetes and Digestive and Kidney DiseasesCrohn's and Colitis FoundationNational Institute of General Medical SciencesNational Cancer InstituteNational Institute of Allergy and Infectious DiseasesLeona M. and Harry B. Helmsley Charitable TrustMedical Research CouncilAgency for Healthcare Research and QualityEuropean CommissionInflammatory Bowel and Immunobiology Research InstituteParkinson's Disease FoundationSanford J. Grossman Charitable TrustCedars-Sinai Medical CenterNational Institute on AgingNational Institute of Neurological Disorders and StrokeUniversity of PittsburghJohns Hopkins UniversityUniversity of MiamiUnited States - Israel Binational Science FoundationNational Science FoundationNational Institute of Mental HealthHuman Frontier Science ProgramCrohn's and Colitis Foundation of AmericaNational Institutes of HealthHarvard NeuroDiscovery Center
KeywordsLRRK2DiseaseCrohn's diseaseParkinson's diseaseMedicineGeneGeneticsBioinformaticsBiologyInternal medicine

Abstract

fetched live from OpenAlex

alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases.

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 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)0.001
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 score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
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 head0.014
GPT teacher head0.262
Teacher spread0.248 · 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

Citations408
Published2018
Admission routes1
Has abstractyes

Explore more

Same venueScience Translational MedicineSame topicInflammatory Bowel DiseaseFrench-language works237,207