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Record W4396592461 · doi:10.1186/s12711-024-00891-w

Redefining and interpreting genomic relationships of metafounders

2024· article· en· W4396592461 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

VenueGenetics Selection Evolution · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and phenotypic traits in livestock
Canadian institutionsCanadian Wood Council
Fundersnot available
KeywordsBiologyEvolutionary biologySelection (genetic algorithm)Genomic selectionComputational biologyGenomicsData scienceGeneticsGenealogyGenomeComputer scienceArtificial intelligenceGenotypeHistoryGeneSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

Abstract Metafounders are a useful concept to characterize relationships within and across populations, and to help genetic evaluations because they help modelling the means and variances of unknown base population animals. Current definitions of metafounder relationships are sensitive to the choice of reference alleles and have not been compared to their counterparts in population genetics—namely, heterozygosities, F ST coefficients, and genetic distances. We redefine the relationships across populations with an arbitrary base of a maximum heterozygosity population in Hardy–Weinberg equilibrium. Then, the relationship between or within populations is a cross-product of the form $${\Gamma }_{\left(b,{b}^{\prime}\right)}=\left(\frac{2}{n}\right)\left(2{\mathbf{p}}_{b}-\mathbf{1}\right)\left(2{\mathbf{p}}_{{b}^{\prime}}-\mathbf{1}\right)^{\prime}$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mrow> <mml:msub> <mml:mi>Γ</mml:mi> <mml:mfenced> <mml:mi>b</mml:mi> <mml:mo>,</mml:mo> <mml:msup> <mml:mrow> <mml:mi>b</mml:mi> </mml:mrow> <mml:mo>′</mml:mo> </mml:msup> </mml:mfenced> </mml:msub> <mml:mo>=</mml:mo> <mml:mfenced> <mml:mfrac> <mml:mn>2</mml:mn> <mml:mi>n</mml:mi> </mml:mfrac> </mml:mfenced> <mml:mfenced> <mml:mn>2</mml:mn> <mml:msub> <mml:mi>p</mml:mi> <mml:mi>b</mml:mi> </mml:msub> <mml:mo>-</mml:mo> <mml:mn>1</mml:mn> </mml:mfenced> <mml:msup> <mml:mfenced> <mml:mn>2</mml:mn> <mml:msub> <mml:mi>p</mml:mi> <mml:msup> <mml:mrow> <mml:mi>b</mml:mi> </mml:mrow> <mml:mo>′</mml:mo> </mml:msup> </mml:msub> <mml:mo>-</mml:mo> <mml:mn>1</mml:mn> </mml:mfenced> <mml:mo>′</mml:mo> </mml:msup> </mml:mrow> </mml:math> with $$\mathbf{p}$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mi>p</mml:mi> </mml:math> being vectors of allele frequencies at $$n$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mi>n</mml:mi> </mml:math> markers in populations $$b$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mi>b</mml:mi> </mml:math> and $$b^{\prime}$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:msup> <mml:mi>b</mml:mi> <mml:mo>′</mml:mo> </mml:msup> </mml:math> . This is simply the genomic relationship of two pseudo-individuals whose genotypes are equal to twice the allele frequencies. We also show that this coding is invariant to the choice of reference alleles. In addition, standard population genetics metrics (inbreeding coefficients of various forms; F ST differentiation coefficients; segregation variance; and Nei’s genetic distance) can be obtained from elements of matrix $${\varvec{\Gamma}}$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mrow> <mml:mi>Γ</mml:mi> </mml:mrow> </mml:math> .

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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.757
Threshold uncertainty score0.418

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 head0.016
GPT teacher head0.241
Teacher spread0.225 · 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