[Application of copy number variation analysis based on raw data of next-generation sequencing in the molecular diagnosis for primary immunodeficiency disease].

Abstract excerpt

Objective: To study the application of copy number variation (CNV) analysis based on the raw data of next-generation sequencing (NGS) in diagnosing primary immunodeficiency disease (PID). Methods: One hundred sixty-five patients with suspicious PID were tested by NGS in the Department of Rheumatology and Immunology, Shenzhen Children's Hospital during September 2014 and Mary 2017. The raw data of the patients who...

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