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Record W4239146562 · doi:10.1002/047001153x.g202209

Linkage mapping

2005· other· en· W4239146562 on OpenAlexaff
Mark Samuels, Marie‐Pierre Dubé

Bibliographic record

VenueEncyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · 2005
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsMontreal Heart InstituteDalhousie University
Fundersnot available
KeywordsGeneticsMicrosatelliteBiologyPositional cloningPhenotypeGenetic linkageGenomeLinkage (software)Gene mappingComputational biologyMutationGeneChromosomeAllele

Abstract

fetched live from OpenAlex

Abstract Linkage mapping refers to the specification of a particular chromosomal segment or segments within the genome that carry a causal DNA variant or mutation leading to a biological phenotype of interest. The appropriate chromosomal segment is determined through the use of anonymous polymorphic DNA markers as tags in different individuals who share the phenotype. Statistical analysis of data is usually critical in the determination. For whole‐genome linkage analysis, the most commonly used polymorphic markers are short tandem repeats, known as microsatellites or STRs. The experimental use of these markers has many subtleties and pitfalls, which are reviewed. Successful linkage mapping for a phenotypic trait is followed by the process of positional cloning, whereby the true underlying genetic variant is discovered. The final step from anonymous chromosomal segment to sequence variant detection can be relatively straightforward or highly demanding, depending on the complexity of the phenotype, the severity of the mutation in affecting gene function, and the extent to which carriers of the mutation are predisposed to the phenotype.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: Other
Teacher disagreement score0.437
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
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 head0.006
GPT teacher head0.199
Teacher spread0.193 · 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.

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

Citations2
Published2005
Admission routes1
Has abstractyes

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