Rare disease gene association discovery in the 100,000 Genomes Project
Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-wA rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-wA rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
