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