Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

• DOI: 10.1016/j.isci.2022.103760
• Publication Date: 2022-01-10T17:29:43Z
• Authors: Nikhil Shri Sahajpal; Chi-Yu Jill Lai; Alex Hastie; Ashis K. Mondal; Siavash Raeisi De...; Caspar I. van der...; Olivier Fedrigo; Farooq Al-Ajli; Sawan Jalnapurkar; Marta Byrska-Bishop; Rashmi Kanagal-Sh...; Brynn Levy; Maximilian Schieck; Thomas Illig; Silviu-Alin Bacanu; Janet S. Chou; Adrienne G. Randolph; Amyn M. Rojiani; Michael C. Zody; Catherine A. Brow...; Alan H. Beggs; Vineet Bafna; Erich D. Jarvis; Alexander Hoischen; Alka Chaubey; Ravindra Kolhe
• Keywords: Genome-wide Association Study

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 (SVs), which account for a substantial proportion genetic diversity including clinically relevant variation. We performed optical genome mapping on 52 severely ill patients identify rare/unique SVs as decisive predisposition factors COVID-19. 7 involving genes implicated in two key host-viral interaction pathways: innate immunity inflammatory response, viral replication spread nine patients,