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Record W2994828253 · doi:10.1016/j.ajhg.2019.11.010

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2019· article· en· W2994828253 on OpenAlexaff
Yingjie Zhao, Alexander Diacou, H. Richard Johnston, Fadi I. Musfee, Donna M. McDonald‐McGinn, Daniel E. McGinn, T. Blaine Crowley, Gabriela M. Repetto, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Wendy R. Kates, M. Cristina Digilio, Marta Unolt, Bruno Marino, Maria Pontillo, Marco Armando, Fabio Di Fabio, Stefano Vicari, Marianne B. M. van den Bree, Hayley Moss, Michael J. Owen, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Kelly Schoch, Vandana Shashi, Flora Tassone, Tony J. Simon, Robert J. Shprintzen, Linda Campbell, Nicole Philip, Damián Heine‐Suñer, Sixto García‐Miñáur, Luis C. Fernández, Stylianos E. Antonarakis, Massimo Biondi, Erik Boot, Elemi Breetvelt, Tiffany Busa, Nancy J. Butcher, Antonino Buzzanca, Miri Carmel, Isabelle Cleynen, David J. Cutler, Bruno Dallapiccola, María Angeles de la Fuente Sanches, Michael P. Epstein, Rens Evers, Rosemarie Fritsch, Fernando García Algas, Tingwei Guo, Raquel E. Gur, Matthew S. Hestand, Tracy Heung, Stephen R. Hooper, Andrea Jin, Leila Kushan, Alejandra Laorden-Nieto, Guido Maria Lattanzi, Christian Marshall, Kathryn McCabe, Elena Michaelovsky, Claudia Ornstein, Candice K. Silversides, Oanh Tran, Esther D.A. van Duin, Elfi Vergaelen, Steve T. Warren, Ronnie Weinberger, Abraham Weizman, Zhengdong Zhang, Michael E. Zwick, Carrie E. Bearden, Claudia Vingerhoets, Thérèse van Amelsvoort, Stéphan Eliez, Maude Schneider, Jacob Vorstman, Doron Gothelf, Elaine H. Zackai, A. J. Agopian, Anne S. Bassett, Beverly S. Emanuel, Elizabeth Goldmuntz, Laura E. Mitchell, Tao Wang, Bernice E. Morrow

Bibliographic record

VenueThe American Journal of Human Genetics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCongenital heart defects research
Canadian institutionsToronto General HospitalCentre for Addiction and Mental HealthGenome CanadaHospital for Sick ChildrenUniversity of Toronto
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Heart, Lung, and Blood InstituteNational Institute of Mental HealthMedical Research CouncilNational Institutes of HealthFondation Leducq
KeywordsSequence (biology)AlleleDeletion syndromeGeneticsDiGeorge syndromeCardiologyInternal medicineMedicineBiologyGenePhenotype

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 categoriesnone
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 score0.626
Threshold uncertainty score0.390

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
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 head0.022
GPT teacher head0.288
Teacher spread0.267 · 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

Citations74
Published2019
Admission routes1
Has abstractno

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