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Record W4294845406 · doi:10.1101/2022.09.06.506725

Bayesian inference of admixture graphs on Native American and Arctic populations

2022· preprint· en· W4294845406 on OpenAlexaboutno aff
Svend Vendelbo Nielsen, Andrew H. Vaughn, Kalle Leppälä, Michael J. Landis, Thomas Mailund, Rasmus Nielsen

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2022
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicForensic and Genetic Research
Canadian institutionsnot available
Fundersnot available
KeywordsInferenceMarkov chain Monte CarloGraphAlgorithmDense graphPopulationComputer scienceBayesian probabilityMathematicsPathwidthCombinatoricsTheoretical computer scienceLine graphArtificial intelligence

Abstract

fetched live from OpenAlex

Abstract Admixture graphs are mathematical structures that describe the ancestry of populations in terms of divergence and merging (admixing) of ancestral populations as a graph. An admixture graph consists of a graph topology, branch lengths, and admixture proportions. The branch lengths and admixture proportions can be estimated using numerous numerical optimization methods, but inferring the topology involves a combinatorial search for which no polynomial algorithm is known. In this paper, we present a reversible jump MCMC algorithm for sampling high-probability admixture graphs and show that this approach works well both as a heuristic search for a single best-fitting graph and for summarizing shared features extracted from posterior samples of graphs. We apply the method to 11 Native American and Siberian populations and exploit the shared structure of high-probability graphs to address the relationship between Saqqaq, Inuit, Koryaks, and Athabascans. Our analyses show that the Saqqaq is not a good proxy for the previously identified gene flow from Arctic people into the Na-Dene speaking Athabascans. Author Summary One way of summarizing historical relationships between genetic samples is by constructing an admixture graph. An admixture graph describes the demographic history of a set of populations as a directed acyclic graph representing population splits and mergers. The inference of admixture graphs is currently done via greedy search algorithms that may fail to find the global optimum. We here improve on these approaches by developing a novel MCMC sampling method, AdmixtureBayes , that can sample from the posterior distribution of admixture graphs. This enables an efficient search of the entire state space as well as the ability to report a level of confidence in the sampled graphs. We apply AdmixtureBayes to a set of Native American and Arctic genomes to reconstruct the demographic history of these populations and report posterior probabilities of specific admixture events. While some previous studies have identified the ancient Saqqaq culture as a source of introgression into Athabascans, we instead find that it is the Siberian Koryak population, not the Saqqaq, that serves as the best proxy for gene flow into Athabascans.

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How this classification was reachedexpand

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 categoriesMeta-epidemiology (narrow)
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 score0.555
Threshold uncertainty score1.000

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 science0.0000.001
Research integrity0.0000.001
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 head0.017
GPT teacher head0.279
Teacher spread0.262 · 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 teacher head, not a consensus.

Study designBench or experimental
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

Citations4
Published2022
Admission routes1
Has abstractyes

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