Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
iScience
; 2022.
Article
in English
| EuropePMC | ID: covidwho-1615353
ABSTRACT
Impressive global efforts have identified both rare and common gene variants associated with severe COVID-19 using sequencing technologies. However, these studies lack the sensitivity to accurately detect several classes of variants, especially large structural variants (SVs), which account for a substantial proportion of genetic diversity including clinically relevant variation. We performed optical genome mapping on 52 severely-ill COVID-19 patients to identify rare/unique SVs as decisive predisposition factors associated with COVID-19. We identified 7 SVs involving genes implicated in two key host-viral interaction pathways innate immunity and inflammatory response, and viral replication and spread in 9 patients, of which SVs in STK26 and DPP4 genes are the most intriguing candidates. This study is the first to systematically assess the potential role of SVs in the pathogenesis of COVID-19 severity and highlights the need to evaluate SVs along with sequencing variants to comprehensively associate genomic information with inter-individual variability in COVID-19 phenotypes. Graphical
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Collection:
Databases of international organizations
Database:
EuropePMC
Language:
English
Journal:
IScience
Year:
2022
Document Type:
Article
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