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Record W2006860521 · doi:10.1159/000132162

Cystic fibrosis: progress in mapping the disease locus using polymorphic DNA markers. I.

2008· article· en· W2006860521 on OpenAlex
L.-C. Tsui, M. Zsiga, Derek Kennedy, N. Plavsic, D. Markiewicz, Manuel Buchwald

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
aboutThe title or abstract carries a Canadian signal from the geographic lexicon.

Bibliographic record

VenueCytogenetics and Cell Genetics · 2008
Typearticle
Languageen
FieldMedicine
TopicCystic Fibrosis Research Advances
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
Fundersnot available
KeywordsMedical geneticsSick childMedicineGeneticsFamily medicinePediatricsBiology

Abstract

fetched live from OpenAlex

The conventional approach to the identification of the affected gene in inherited diseases is through the demonstration of specific biochemical abnormalities in patients, their tissues, or cells. This approach has, unfortunately, been unsuccessful in the case of cystic fibrosis (CF), the most common severe autosomal recessive disorder in Causasians. An alternative approach is to locate the CF gene by linkage studies with chromosomal markers. We report here our results of testing 39 DNA restriction fragment length polymorphic (RFLP) markers using a panel of 45 two-generation Canadian families each with two or more affected children. The probability of linkage between each marker and CF was analyzed by the lod score method using the LIPED program. The results of these analyses show that none of the markers tested is closely linked to the disease locus.

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.

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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.076
Threshold uncertainty score0.820

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 head0.037
GPT teacher head0.273
Teacher spread0.235 · 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