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Record W4310162558 · doi:10.1182/blood-2022-163123

<i>In silico</i> and Functional Studies for Classification of <i>EPAS1/HIF2A</i> Genetic Variants Identified in Patients with Erythrocytosis

2022· article· en· W4310162558 on OpenAlexaff
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Vincent Antunes, Amandine Le Roy, Fabrice Airaud, Bernard Aral, Loic Schmitt, Sébastien Corbineau, Lamisse Mansour‐Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Stéphane Bezieau, Bruno Cassinat, F. Galactéros, Anne‐Paule Gimenez‐Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, Anaïse Blouet, Juliette Bouteloup, Françoise Boyer perrard, Aisha Bruce, Émilie Cayssials, Nicole Casadevall, Brieuc Chérel, Marie‐Laure Couec, Louis Drevon, C. Dumesnil, T. Lamy de la Chapelle, Marion Gambart, Loïc Garçon, B. Granel, Pierre Hirsch, Agnès Lahary, Amira Mejri, Sandrine Meunier, Franck E. Nicolini, Emmanuel Raffoux, Dana Ranta, N. Schleinitz, Jean Baptiste Valentin, Mathieu Wémeau, François Girodon, David Hoogewijs, Betty Gardie, Olivier Hermine

Bibliographic record

VenueBlood · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer, Hypoxia, and Metabolism
Canadian institutionsUniversity of Alberta
FundersAgence Nationale de la Recherche
KeywordsIn silicoGeneticsBiologyComputational biologyMedicineGene

Abstract

fetched live from OpenAlex

International audience

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)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.008
Threshold uncertainty score0.027

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0080.002

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 head0.233
Teacher spread0.219 · 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 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

Citations1
Published2022
Admission routes1
Has abstractyes

Explore more

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