Article

Advancing Human Population Genomics with DNA Foundation Models

2025-09-12

Abstract excerpt

DNA foundation models offer a new approach to interpret genetic variation, but their potential in population-scale genomics remains untapped. We introduce a novel analytical framework that integrates a genomic foundation model with human population genomics studies. We employed the Evo2 DNA foundation model to systematically score the functional impact of a variant and haplotype across diverse cohorts including pe...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e9f15a39-5061-599c-aba8-4f9126978e20
DOI: 10.1101/2025.09.09.25335438

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Advancing Human Population Genomics with DNA Foundation ModelsDOI 10.1101/2025.09.09.25335438Read

Advancing Human Population Genomics with DNA Foundation ModelsSemantic proximity Read

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics.Semantic proximity Read

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statisticsSemantic proximity Read

Improving genetic risk modeling of dementia from real-world data in underrepresented populationsSemantic proximity Read

PGS Browser: a public platform for personalized polygenic score analysis and interpretation.Semantic proximity Read

Improving genetic risk modeling of dementia from real-world data in underrepresented populations.Semantic proximity Read

Improving genetic risk modeling of dementia from real-world data in underrepresented populationsSemantic proximity Read

Stratifying variant deleteriousness and trait-modulating effect under human recent adaptationSemantic proximity Read

PGG.Population: a database for understanding the genomic diversity and genetic ancestry of human populations.Semantic proximity Read

Ancestry-specific effects of <i>APOE</i> on Alzheimer Disease EndophenotypesSemantic proximity Read

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populationsSemantic proximity Read

Bayesian analysis of GWAS summary data reveals differential signatures of natural selection across human complex traits and functional genomic categoriesSemantic proximity Read