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Optical Genome Mapping Improves Genetic Diagnosis in Chronic Granulomatous Diseases.

Research Square 2022
Hui X, et al.

Xiaoying Hui, Jingmin Yang, Wenjie Wang, Jing Zhang, Jia Hou, Wenjing Ying, bijun Sun, Lipin Liu, Danru Liu, Qinhua Zhou, Jinqiao Sun, Xiaochuan Wang.

Chronic granulomatous disease(CGD) is mainly caused by defects in genes encoding subunits of NADPH oxidase complex (CYBB, CYBA, NCF1, NCF2, NCF4), and its chaperone (CYBC1). Next generation sequencing has successfully identified pathogenic variants in 131 clinically confirmed CGD patients in the single center, left 4 cases negative. This study sought to explore new technology to resolve these diagnostic dilemmas at whole genome level.

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