Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. Sahajpal et al
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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.
全球范围内的多项重磅研究已通过测序技术，鉴定出与重症新型冠状病毒肺炎（COVID-19）相关的罕见与常见基因变异。然而，此类研究的检测灵敏度存在局限，无法精准检出多类变异，尤其是占遗传多样性（含临床相关变异）相当比例的大型结构变异（structural variants, SVs）。本研究对52名重症COVID-19患者开展光学基因组图谱（optical genome mapping）检测，以鉴定作为COVID-19易感关键因素的罕见/独有结构变异。全球范围内的多项重磅研究已通过测序技术，鉴定出与重症COVID-19相关的罕见与常见基因变异。然而，此类研究的检测灵敏度存在局限，无法精准检出多类变异，尤其是占遗传多样性（含临床相关变异）相当比例的大型结构变异（SVs）。 补充文件1：用于剂量与表达定量聚合酶链反应（quantitative polymerase chain reaction, qPCR）实验的引物列表 补充文件2：罕见/独有结构变异的完整列表 补充文件3：经qPCR剂量实验验证的罕见/独有结构变异 补充文件4：重症COVID-19患者拷贝数变异（copy number variations, CNVs）的完整列表 补充文件5：传统细胞遗传学技术、短读长测序、长读长测序与光学基因组图谱的对比分析
