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Record W2295269630 · doi:10.1038/ejhg.2016.9

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

2016· article· en· W2295269630 on OpenAlexafffund
Ramesh Reddy, Ngoc Minh Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Kristin P Nunez, Hélène Dreyfus, Philippe Merviel, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ülker, Fatemeh Hadipour, Fatemeh Ahmadpour, Isabelle Touitou, Majid Fardaei, Rima Slim

Bibliographic record

VenueEuropean Journal of Human Genetics · 2016
Typearticle
Languageen
FieldMedicine
TopicGestational Trophoblastic Disease Studies
Canadian institutionsMcGill UniversityMcGill University Health Centre
FundersCanadian Institutes of Health ResearchGénome QuébecMcGill University
KeywordsBiologyGeneticsAlu elementBreakpointExonGeneIntronGenomeGene duplicationSegmental duplicationRNA splicingHuman genomeGene familyRNAChromosome

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)0.002
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 score0.006
Threshold uncertainty score0.021

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.001

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 head0.259
Teacher spread0.245 · 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

Citations35
Published2016
Admission routes2
Has abstractno

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