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Information content as a health system screening tool for rare diseases
npj Digital Medicine, Published online: 25 November 2025; doi:10.1038/s41746-025-02096-x
Information content as a health system screening tool for rare diseases
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Rare disease gene association discovery in the 100,000 Genomes Project
Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-w
A 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.