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Record W1965717566 · doi:10.1002/ajmg.a.37089

The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

2015· article· en· W1965717566 on OpenAlexaff
Bruce R. Korf, Reza Ahmadian, Judith Allanson, Yoko Aoki, Annette Bakker, Emma Burkitt Wright, Brian Denger, Ype Elgersma, Bruce D. Gelb, Karen W. Gripp, Bronwyn Kerr, Maria Kontaridis, Conxi Lázaro, Corinne M. Linardic, Reymundo Lozano, Calum A. MacRae, Ludwine Messiaen, Sonia Mulero‐Navarro, Benjamin G. Neel, Scott R. Plotkin, Katherine A. Rauen, Amy E. Roberts, Alcino J. Silva, Sitta Sittampalam, Chao Zhang, Lisa Schoyer

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicProtein Tyrosine Phosphatases
Canadian institutionsPrincess Margaret Cancer CentreUniversity Health NetworkChildren's Hospital of Eastern Ontario
FundersNational Heart, Lung, and Blood InstituteNational Institute of Arthritis and Musculoskeletal and Skin DiseasesPlexxikonNational Institute of General Medical SciencesNational Institute of Mental HealthChildren's Tumor FoundationNovo NordiskWellcome TrustNational Cancer InstituteMarch of Dimes Foundation
KeywordsNoonan syndromeMAPK/ERK pathwayMedicineTheme (computing)Therapeutic approachIdentification (biology)Panel discussionCritical pathwaysPsychiatryKinaseInternal medicineBiologyGeneticsDiseaseComputer science

Abstract

fetched live from OpenAlex

"The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach" was held at the Renaissance Orlando at SeaWorld Hotel (August 2-4, 2013). Seventy-one physicians and scientists attended the meeting, and parallel meetings were held by patient advocacy groups (CFC International, Costello Syndrome Family Network, NF Network and Noonan Syndrome Foundation). Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes, to identification of therapeutic targets in the RAS/MAPK pathway, to preclinical drug development and testing, to clinical trials. These proceedings will review the major points of discussion.

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)0.004
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: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.013
Threshold uncertainty score0.045

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.000
Science and technology studies0.0010.001
Scholarly communication0.0030.001
Open science0.0010.002
Research integrity0.0040.006
Insufficient payload (model declined to judge)0.0130.005

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 head0.018
GPT teacher head0.286
Teacher spread0.268 · 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 designNot applicable
Domainnot available
GenreOther

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

Citations13
Published2015
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicProtein Tyrosine PhosphatasesFrench-language works237,207