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Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs
2014
Frontiers in Immunology
Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for PID patients using a phenotype-based approach is often complex, expensive, and not always successful. Nextgeneration sequencing (NGS) methods offer an unbiased genotype-based approach, which can facilitate molecular diagnostics. Objective: To develop an efficient NGS method to identify variants in PID-related genes. Methods:We performed HaloPlex custom
doi:10.3389/fimmu.2014.00531
pmid:25404929
pmcid:PMC4217515
fatcat:25y7cvhyszaftect42iv5fkhju