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Trends in immunology
Published

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

Authors

Sarah M Carpanini, Rebecca Sims

Abstract

Trends Immunol. 2025 Oct 2:S1471-4906(25)00225-X. doi: 10.1016/j.it.2025.09.006. Online ahead of print.

ABSTRACT

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.

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