Article
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.
The Journal of molecular diagnostics : JMD - 1 Jun 2022
Kermode William, De Santis Dianne, Truong Linh, Della Mina Erika, Salman Sam, Thompson Grace, Nolan David, Loh Richard, Mallon Dominic, Mclean-Tooke Andrew, John Mina, Tangye Stuart G, O'Sullivan Michael, D'Orsogna Lloyd J
Abstract excerpt
With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study aimed to identify disease-causing variants in a Western Australian CVID cohort using a novel targeted NGS panel. Targeted amplicon NGS was performed on 22 unrelated subjects who met the formal European Society for Immunodeficiencies-Pan-American Group for...
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