Article

Discovering cell types underlying rare disease phenotypes using scRNA-seq data from non-diseased tissues

2025-12-11

Abstract excerpt

Despite their low individual prevalence, rare diseases collectively pose a significant health burden, affecting millions of people worldwide. These conditions often result from single-gene mutations, yet the cellular contexts in which these alterations act remain largely unknown—information crucial for improving diagnosis and treatment. As patient-derived samples are scarce, we use single-cell RNA sequencing (scRN...

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Literature Corpus work: 523e760f-7491-5420-a7b7-d38c1066e553
DOI: 10.64898/2025.12.09.693155

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