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Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

3 Nov 2014

Abstract excerpt

BACKGROUND: 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. Next-generation sequencing (NGS) methods offer an unbiased genotype-based approach, which can facilitate molecular diagnostics. OBJECTIVE: To develop an efficient...

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PMID: 25404929
DOI: 10.3389/fimmu.2014.00531

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