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Article

NGS data analysis for molecular diagnosis of Inborn Errors of Immunity.

Seminars in immunology - 1 Jan 2000

Yang X T, Yang W L, Lau Y L

Abstract excerpt

Inborn errors of immunity (IEI) encompass a group of disorders with a strong genetic component. Prompt and accurate diagnosis of these disorders is essential for effective clinical management. Next-generation sequencing (NGS) has significantly enhanced the diagnostic process by offering a comprehensive and scalable approach for identifying genomic variations causal for these disorders. Nevertheless, the...

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PMID: 39509871
DOI: 10.1016/j.smim.2024.101901

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