MétaCan
Menu
Back to cohort
Record W2898017664 · doi:10.1002/ajmg.a.40632

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

2018· article· en· W2898017664 on OpenAlexaff
Katherine A. Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John G. Albeck, Brage Storstein Andresen, Hélène Cavé, Michelle Ellis, Steven Fruchtman, Bruce D. Gelb, Christopher C. Gibson, Karen W. Gripp, Erin Hefner, William Y. C. Huang, Maxim Itkin, Bronwyn Kerr, Corinne M. Linardic, Martin McMahon, Beverly Oberlander, Ethan Perlstein, Nancy Ratner, Leslie A. Rogers, Annette Schenck, Suma P. Shankar, Stanislav Y. Shvartsman, David A. Stevenson, Edward C. Stites, Philip A. Stork, Cheng Sun, Marc Therrien, Erik M. Ullian, Brigitte C. Widemann, Erika Yeh, Giuseppe Zampino, Martin Zenker, William C. Timmer, Frank McCormick

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicProtein Tyrosine Phosphatases
Canadian institutionsUniversité de Montréal
FundersNational Heart, Lung, and Blood InstituteNational Institute of Arthritis and Musculoskeletal and Skin DiseasesTufts University School of MedicineDepartment of Genetics, University of Alabama at BirminghamUniversity of Alabama at BirminghamPharmaceutical Research and Manufacturers of America FoundationChildren's Tumor FoundationEveryLife Foundation for Rare DiseasesNational Cancer InstituteNational Institutes of HealthMarch of Dimes FoundationNational Eye Institute
KeywordsBiologyMedicine

Abstract

fetched live from OpenAlex

This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.

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 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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.503
Threshold uncertainty score0.279

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 studies0.0000.001
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 head0.008
GPT teacher head0.264
Teacher spread0.256 · 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

Citations14
Published2018
Admission routes1
Has abstractyes

Explore more

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