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Molecular Detection of Uniparental Disomy

2003· article· en· W246072 on OpenAlex

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.

Bibliographic record

VenueMolecular Cytogenetics · 2003
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsUniparental disomyGeneticsBiologyGenotypingMicrosatelliteImprinting (psychology)KaryotypeGenomic imprintingDNA methylationChromosomeGenotypeGeneAllele

Abstract

fetched live from OpenAlex

Cells with uniparental disomy (UPD) may have a normal cytogenetic karyotype but are unbalanced in terms of parental contribution. Diagnosis of UPD thus requires genotyping the ‘patient’ and parental DNA samples, i.e., evaluating the inheritance of molecular polymorphisms. This is most commonly preformed by microsatellite analysis which involves PCR amplification of polymorphic short tandem repeat loci with resolution of band sizes on a polyacrylamide gel. In some situations the UPD may be ‘segmental,’ i.e., involving only one region of the chromosome. Thus markers tested must be carefully chosen to ensure the region of UPD is not missed. For some chromosomes the presence of methylation differences between the two parental homologs can also be utilized to screen for UPD. The advantage to methylation based methods is that parental DNA is not necessary, and other imprinting defects may be picked up. The disadvantage is that UPD cannot be distinguished from abnormal methylation due to other causes by such methods alone.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.068
Threshold uncertainty score0.988

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 studies0.0000.000
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 head0.227
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