Publications
Trends in immunologyNov 2025 |
46
(
11
),
714-716
DOI:
10.1016/j.it.2025.09.006

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

Carpanini, Sarah M; Sims, Rebecca
Product Used
Genes
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.
Product Used
Genes

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