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The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update

2003· review· en· W4211090754 on OpenAlexaff
Tuomo Rankinen, Rainer Rauramaa, Miguel A. Rivera, Bernd Wolfarth, Claude Bouchard

Bibliographic record

VenueMedicine & Science in Sports & Exercise · 2003
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Physical Performance
Canadian institutionsUniversité Laval
Fundersnot available
KeywordsGeneticsAutosomeLocus (genetics)Candidate geneBiologyPhenotypeGene mappingGeneGene mapQuantitative trait locusGenetic linkageGenetic associationGenome-wide association studyHuman genomeGenomeChromosomeSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

PÉRUSSE, L., T. RANKINEN, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and CLAUDE BOUCHARD. The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update. Med. Sci. Sports Exerc., Vol. 35, No. 8, pp. 1248–1264, 2003. This review presents the 2002 update of the human gene map for physical performance and health-related phenotypes. It is based on peer-reviewed papers published by the end of 2002 and includes association studies with candidate genes, genome-wide scans with polymorphic markers, and single gene defects causing exercise intolerance to variable degrees. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise, or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. Negative studies are reviewed, but a gene or locus must be supported by at least one positive study before being inserted on the map. By the end of 2000, 29 loci were depicted on the map. The 2001 map includes 71 loci on the autosomes and two on the X chromosome. In contrast, the 2002 human gene map for physical performance and health-related phenotypes includes 90 gene entries and QTL, plus two on the X chromosome. To all these loci, one must add 14 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.013
Threshold uncertainty score0.043

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0060.004
Science and technology studies0.0000.001
Scholarly communication0.0020.002
Open science0.0020.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0130.011

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 head0.025
GPT teacher head0.317
Teacher spread0.291 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

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

Citations123
Published2003
Admission routes1
Has abstractyes

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