Article

Genetic variation shapes human mRNA translation and disease risk

2026-02-12

Abstract excerpt

Genetic variation can influence protein abundance through translation, yet this regulatory layer remains poorly defined. We developed a deep learning approach to systematically map the effects of single-nucleotide variant (SNV) on translation efficiency (TE) across the human genome. In lymphoblastoid cells, >90,000 variants substantially altered TE, with strong positional and sequence-context biases. Importantly,...

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Literature Corpus work: 293c5894-5a2d-55e8-9a90-1e3001366a85
DOI: 10.64898/2026.02.10.705206

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