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Record W2416794285 · doi:10.1159/000445237

Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury

2016· review· en· W2416794285 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

VenueMedicine and sport science/Medicine and sport · 2016
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Physical Performance
Canadian institutionsChild and Family Research Institute
Fundersnot available
KeywordsPhenotypeBiologyGeneticsHuman genomeDiseaseEpigeneticsComputational biologyExome sequencingPopulationGenetic associationGeneGenomeEvolutionary biologySingle-nucleotide polymorphismMedicineGenotypePathology

Abstract

fetched live from OpenAlex

High-throughput sequencing of multiple human exomes and genomes is rapidly identifying rare genetic variants that cause or contribute to disease. Microarray-based methodologies have also shed light onto the genes that contribute to common, non-disease human traits such as hair and eye colour. Sport scientists should keep in mind several things when interpreting the literature, and when designing their own genetic studies. First of all, most genetic association methods are more powerful for detecting disease phenotypes (such as susceptibility to injury) than they are for detecting healthy phenotypes (such as sport performance). This is because there are likely to be many more biological factors contributing to the latter, and the effect size of most of these biological factors is likely to be small. Second, implicating a particular gene in a human phenotype like athletic performance or injury susceptibility requires an unbiased population data set. Third, new types of non-coding biological variability continue to be uncovered in the human genome (e.g. epigenetic modifications, microRNAs, etc.). These other types of variability may contribute significantly to differences in athletic performance.

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)0.002
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Science and technology studies
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.830
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0000.001
Science and technology studies0.0000.004
Scholarly communication0.0000.000
Open science0.0010.000
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 head0.106
GPT teacher head0.383
Teacher spread0.277 · 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