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

Carpanini, Sarah M. and Sims, Rebecca 2025. Potential impact of long-read sequencing on complement-mediated diseases. Trends in Immunology 10.1016/j.it.2025.09.006

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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.

Item Type:	Article
Date Type:	Published Online
Status:	In Press
Schools:	Schools > Medicine
Publisher:	Cell Press
ISSN:	1471-4906
Date of First Compliant Deposit:	23 October 2025
Date of Acceptance:	10 September 2025
Last Modified:	23 Oct 2025 12:46
URI:	https://orca.cardiff.ac.uk/id/eprint/181860

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