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Record W4387582178 · doi:10.1002/ajmg.a.63441

Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry

2023· article· en· W4387582178 on OpenAlexaff
Roopa Kanakatti Shankar, Alexandra Carl, Jennifer Law, Vaneeta Bamba, Wendy J. Brickman, Siddharth K. Prakash, Tazim Dowlut McElroy, Susan Howell, Iris Gutmark‐Little, Karen O. Klein, Catherina T. Pinnaro, Kelly C. Ranallo, Marybel Good, Shanlee Davis

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsCARE Canada
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Diabetes and Digestive and Kidney DiseasesTurner Syndrome Global Alliance
KeywordsHealth carePopulationPopulation healthStakeholderResource (disambiguation)ConceptualizationMedicineFamily medicineMedical educationPublic relationsComputer scienceEnvironmental healthPolitical science

Abstract

fetched live from OpenAlex

Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community. Key features of InsighTS include recruitment strategies to facilitate enrollment of participants that appropriately reflect the population of individuals with TS receiving care in the US, clarity of data ownership and sharing, and sustainability of this resource. The registry gathers clinical data on diagnosis, treatment, comorbidities, health care utilization, clinical practices, and quality of life with the goal of improving health outcomes for this population. Future directions include multiple patient-centered clinical-translational research projects that will use the InsighTS platform. This thorough and thoughtful planning will ensure InsighTS is a valuable and sustainable resource for the TS community for decades to come.

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)0.287
metaresearch head score (Gemma)0.222
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Protocol · Consensus signal: none
Teacher disagreement score0.287
Threshold uncertainty score0.880

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.2870.222
Meta-epidemiology (narrow)0.0010.002
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0040.003
Science and technology studies0.0040.006
Scholarly communication0.0070.006
Open science0.0050.009
Research integrity0.0030.007
Insufficient payload (model declined to judge)0.0080.004

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 head0.036
GPT teacher head0.395
Teacher spread0.359 · 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.

Study designTheoretical or conceptual
Domainnot available
GenreProtocol

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

Citations12
Published2023
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesFrench-language works237,207