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Record W2991468917 · doi:10.1038/s41593-019-0530-0

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

2019· article· en· W2991468917 on OpenAlexfundno aff
Sali M.K. Farhan, Daniel P. Howrigan, Liam Abbott, Joseph R. Klim, Simon Topp, Andrea Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley Smith, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Daniel A. Mordes, Sulagna Ghosh, Kevin Eggan, Rosa Rademakers, Jacob L. McCauley, Rebecca Schüle, Stephan Züchner, Michael Benatar, J. Paul Taylor, Michael A. Nalls, Marc Gotkine, Pamela J. Shaw, Karen Morrison, Ammar Al‐Chalabi, Bryan J. Traynor, Christopher E. Shaw, David B. Goldstein, Matthew B. Harms, Mark J. Daly, Benjamin M. Neale

Bibliographic record

VenueNature Neuroscience · 2019
Typearticle
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsnot available
FundersNational Institute of Mental HealthALS Society of CanadaMedical Research CouncilKing's College LondonSouth London and Maudsley NHS Foundation TrustMotor Neurone Disease AssociationRare Diseases Clinical Research NetworkNational Institute of Neurological Disorders and StrokeNational Institute for Health and Care ResearchEU Joint Programme – Neurodegenerative Disease ResearchNational Center for Advancing Translational SciencesWellcome TrustEconomic and Social Research Council
KeywordsAmyotrophic lateral sclerosisGeneBiologyNeurodegenerationExome sequencingSOD1Heat shock proteinGeneticsExomeProteostasisProtein foldingProtein aggregationMutationCell biologyMutantDiseaseMedicine

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 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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.810
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.002
Science and technology studies0.0000.000
Scholarly communication0.0000.001
Open science0.0010.000
Research integrity0.0000.002
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 head0.044
GPT teacher head0.298
Teacher spread0.254 · 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 designBench or experimental
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

Citations150
Published2019
Admission routes1
Has abstractno

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