Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
Genetic sample
Genomics
Virology
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
18 Feb 2022
18 Feb 2022
Historique:
received:
22
08
2021
revised:
04
11
2021
accepted:
07
01
2022
pubmed:
18
1
2022
medline:
18
1
2022
entrez:
17
1
2022
Statut:
ppublish
Résumé
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 nine patients, of which SVs in
Identifiants
pubmed: 35036860
doi: 10.1016/j.isci.2022.103760
pii: S2589-0042(22)00030-X
pmc: PMC8744399
doi:
Types de publication
Journal Article
Langues
eng
Pagination
103760Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM114362
Pays : United States
Informations de copyright
© 2022 The Author(s).
Déclaration de conflit d'intérêts
J.L., A.H., and A.C. are salaried employees of Bionano Genomics Inc. R.K. has received honoraria, travel funding, and research support from Illumina, Asuragen, QIAGEN, Perkin Elmer Inc, Bionano Genomics, and BMS. A.H.B. has received funding from the NIH, MDA (USA), AFM Telethon, Alexion Pharmaceuticals Inc., Audentes Therapeutics Inc., Dynacure SAS, and Pfizer Inc. He has consulted and received compensation or honoraria from Asklepios BioPharmaceutical Inc, Audentes Therapeutics, Biogen, F. Hoffman-La Roche AG, GLG Inc, Guidepoint Global, and Kate Therapeutics, and holds equity in Ballard Biologics and Kate Therapeutics.
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