#521Genetics & Molecular BiologyFront Page1 December 2025
AI and Proteomics Join Forces to Uncover Rare Genetic Variants
Researchers have successfully combined Large Language Models with large-scale human proteomics data to better identify damaging genetic variants. This refined approach outperforms existing deep learning tools, significantly improving the discovery of gene-trait associations in complex human biology.
By Gillies, Mbatchou, Habegger, Kessler, Bao, Balasubramanian, Delaneau, Kosmicki, Willer, Kang, Baras, Reid, Marchini, Abecasis, Ghoussaini
