Article

Towards a universal foundation model for biobank-scale human genome variation

2025-02-02

Abstract excerpt

Millions of human genomes have been genotyped by national biobanks worldwide. Training large language models (LLM) with this data may lead to a universal model of human genome with tremendous potential. Yet the quadrillions (10 15 ) of nucleotides— resulting from genome length multiplied by population size—pose formidable challenges for modeling. In this study, we propose a novel AI framework designed to scale wi...

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Literature Corpus work: 87b02f3c-03b1-5c08-b5d6-40953ea996bd
DOI: 10.1101/2025.01.29.635579

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