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Article

Potential impact of long-read sequencing on complement-mediated diseases.

Trends in immunology - 1 Nov 2025

Carpanini Sarah M, Sims Rebecca

Abstract excerpt

The complement genes harbour genetic variants that affect numerous diseases; however, these genes are notoriously repeat-heavy, and these repeat regions are largely unexplored for disease-relevant genetic variation. Elucidating these 'dark' regions is now possible using long-read sequencing (LRS), enabling identification of novel disease-relevant genetic variants.

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PMID: 41044035
DOI: 10.1016/j.it.2025.09.006

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