Evidence map›Paper›PMID 40666889›Full record

ArticlebioRxiv : the preprint server for biology2025

Coalescence and Translation: A Language Model for Population Genetics.

Kevin Korfmann, Nathaniel S Pope, Melinda Meleghy, Aurélien Tellier, Andrew D Kern

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In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Kevin KorfmannUniversity of Oregon, Institute of Ecology and Evolution, Eugene, USA.ORCID 0000-0001-8869-8949
Nathaniel S PopeUniversity of Oregon, Institute of Ecology and Evolution, Eugene, USA.ORCID 0000-0001-8409-7812
Melinda MeleghyTechnical University of Munich, Department of Life Science Systems, Munich, Germany.
Aurélien TellierTechnical University of Munich, Department of Life Science Systems, Munich, Germany.ORCID 0000-0002-8895-0785
Andrew D KernUniversity of Oregon, Institute of Ecology and Evolution, Eugene, USA.ORCID 0000-0003-4381-4680

Funding

Deep learning for population geneticsR01HG010774 · NHGRI · UNIVERSITY OF OREGON · PI ANDREW D KERN · 2020 to 2026
$3.2M
Scaling up computational genomics with tree sequencesR01HG012473 · NHGRI · UNIVERSITY OF OREGON · PI PETER Lochhead RALPH · 2023 to 2026
$2.3M
Computational Population GeneticsR35GM148253 · NIGMS · UNIVERSITY OF OREGON · PI ANDREW D KERN · 2023 to 2026
$1.5M
NHGRI NIH HHS R01 HG010774NHGRI NIH HHS R01 HG012473NIGMS NIH HHS R35 GM148253
6 · The paper itself

Abstract

Probabilistic models such as the sequentially Markovian coalescent (SMC) have long provided a powerful framework for population genetic inference, enabling reconstruction of demographic history and ancestral relationships from genomic data. However, these methods are inherently specialized, relying on predefined assumptions and/or limited scalability. Recent advances in simulation and deep learning provide an alternative approach: learning directly to generalize from synthetic genetic data to infer specific hidden evolutionary processes. Here we reframe the inference of coalescence times as a problem of translation between two biological languages: the sparse, observable patterns of mutation along the genome and the unobservable ancestral recombination graph (ARG) that gave rise to them. Inspired by large language models, we develop cxt, a decoder-only transformer that autoregressively predicts coalescent events conditioned on local mutational context. We show that cxt performs on par with state-of-the-art MCMC-based likelihood models across a broad range of demographic scenarios, including both in-distribution and out-of-distribution settings. Trained on simulations spanning the stdpopsim catalog, the model generalizes robustly and enables efficient inference at scale, producing over a million coalescence predictions in minutes. In addition cxt produces a well calibrated approximate posterior distribution of its predictions, enabling principled uncertainty quantification. Our work moves towards a foundation model for population genetics, bridging deep learning and coalescent theory to enable flexible, scalable inference of genealogical history from genomic data.

Identifiers

PMID40666889
PMCPMC12262695

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.