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

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. 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.
Supplementary file 1: List of primers used for dosage and expression qPCR experiments
Supplementary file 2: The complete list of rare/unique SVs
Supplementary file 3: Rare/Unique SVs confirmed using qPCR dosage experiments
Supplementary file 4: A complete list of CNVs in severely ill COVID-19 patients
Supplementary file 5: Comparison of traditional cytogenetic technologies, short-read sequencing, long-read sequencing and optical genome mapping.