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Record W4416978167 · doi:10.1038/s44323-025-00060-2

Adaptive introgression in modern human circadian rhythm genes

2025· article· en· W4416978167 on OpenAlexafffund
Christopher Kendall, Amin Nooranikhojasteh, Guilherme Debortoli, Vinicius Cauê Furlan Roberto, Marla Mendes de Aquino, David R. Samson, Esteban J. Parra, Bence Viola, Michael A. Schillaci

Bibliographic record

Venuenpj Biological Timing and Sleep · 2025
Typearticle
Languageen
FieldNeuroscience
TopicCircadian rhythm and melatonin
Canadian institutionsAmorfix (Canada)University of TorontoSickKids FoundationSGS (Canada)Princess Margaret Cancer CentreThe Scarborough HospitalHospital for Sick Children
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchHospital for Sick Children
KeywordsIntrogressionCline (biology)GenomeGeneHuman genetic variationAdaptation (eye)GenomicsGenetic variation

Abstract

fetched live from OpenAlex

Interbreeding between modern humans and archaic hominins, including Neanderthals and Denisovans, occurred as modern humans migrated outside of Africa. Here, we report on evidence of adaptive introgression from archaic hominins within genomic regions associated with circadian rhythm cycling, chronotype, and sleep using 76 worldwide modern human populations from the Human Genome Diversity Project and 1000 Genomes Project. We identified 265 independent segments suggestive of adaptive introgression, where 22 of these segments show evidence of positive selection. We tested for evidence of a latitudinal cline within 35 core haplotypes, finding no clear latitude gradient, and identified the likely archaic donor for each of these haplotypes. We found that several genes with evidence of adaptive introgression are associated with affective disorders, chronotype, and respiratory diseases. Lastly, many of the variants are eQTLs for several genes that are significantly enriched in immunity pathways.

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.062
GPT teacher head0.300
Teacher spread0.237 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations0
Published2025
Admission routes2
Has abstractyes

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