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Record W2884298210 · doi:10.1016/j.ajhg.2018.07.001

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

2018· article· en· W2884298210 on OpenAlexafffund
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed Al‐Owain, William Allen, Janine Altmüller, Miriam Aza‐Carmona, Bushra A.Y. Barakat, Jimena Barraza‐García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz‐Rojo, Hassan Ali Mundi Dhahrabi, Nursel Elçioğlu, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Marı́a José Ramı́rez, Anya Revah‐Politi, Masaru Shimura, Paul E. Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn M. Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surrallés, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson

Bibliographic record

VenueThe American Journal of Human Genetics · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDNA Repair Mechanisms
Canadian institutionsMemorial University of NewfoundlandHospital for Sick Children
FundersInstituto de Salud Carlos IIIInstitute of GeneticsNational Institutes of HealthMedical Research Council CanadaInstitució Catalana de Recerca i Estudis AvançatsNIHR Great Ormond Street Hospital Biomedical Research CentreMinisterio de Economía y CompetitividadNational Institute for Health and Care ResearchGreat Ormond Street Hospital CharityBundesministerium für Bildung und ForschungDeutsche ForschungsgemeinschaftNational Research FoundationMedical Research CouncilDanmarks GrundforskningsfondEuropean Research CouncilE-RareNational Center for Advancing Translational SciencesWellcome TrustEuropean Regional Development FundEuropean CommissionJapan Agency for Medical Research and DevelopmentKræftens Bekæmpelse
KeywordsBloomBloom syndromeGeneticsMedicineBiologyGeneEcology

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.371
Threshold uncertainty score0.359

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.010
GPT teacher head0.276
Teacher spread0.265 · 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.

The models applied no category: nothing in the taxonomy fit this work.
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

Citations99
Published2018
Admission routes2
Has abstractno

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