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Record W2902547371

Meta-analysis of GWAS of bovine stature with >50,000 animals imputed to whole-genome sequence

2015· article· en· W2902547371 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.

aboutThe title or abstract carries a Canadian signal from the geographic lexicon.
no affNo Canadian affiliation: this work is invisible to an affiliation-only frame.
No Canadian affiliation. An affiliation-only frame, the usual design, would never have seen this work. It is one of the works that make the case for inverting the frame.

Bibliographic record

VenueSocio-Environmental Systems Modeling · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer-related molecular mechanisms research
Canadian institutionsnot available
Fundersnot available
KeywordsGenome-wide association studyComputational biologyGenomeWhole genome sequencingSequence (biology)BiologyGeneticsComputer scienceGeneSingle-nucleotide polymorphismGenotype
DOInot available

Abstract

fetched live from OpenAlex

Extensive meta analysis of GWAS in humans has identified 697 significant SNP, however these SNP explainonly 20% the total genetic variation. In order to compare the genetic architecture of stature in humans tostature in cattle, we performed a large meta-analysis using imputed sequence data. The 1000 Bull Genomesproject provided a multi-breed reference population of 1,147 sequenced animals to impute SNP-chipgenotypes up to whole genome sequence for 15 populations. The populations from Australia, Canada,Denmark, Finland, France, Germany, the Netherlands, and the USA represented the Angus, Fleckvieh,Holstein, Jersey, Montbeliarde, Normande, and Nordic Red Dairy Cattle breeds. Genome-wide associationstudies were performed on stature phenotypes for each of the populations. Individual GWAS studies revealedmany QTL regions and several regions harboured good candidate genes, e.g. PLAG1, IGF2. Results fromthese GWAS studies were combined in a meta-analysis to increase the power for QTL detection and torefine QTL regions exploiting the different patterns of LD among the breeds. Results of this meta-analysiswill be validated in an independent population to determine how much of the variation in stature can beexplained by the significant SNP

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)0.001
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 score0.351
Threshold uncertainty score0.929

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
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 integrity0.0000.000
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 head0.071
GPT teacher head0.293
Teacher spread0.222 · 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