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NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications

1 Oct 2025

Abstract excerpt

Next-Generation Sequencing (NGS) techniques have become a cornerstone of molecular diagnostics, enabling high-throughput, parallel analysis of multiple disease-associated genes. Their targeted design allows streamlined interpretation and optimised diagnostic yield, especially in disorders with known genetic heterogeneity. In this review, we provide a comprehensive overview of the clinical application of NGS...

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PMID: 41096862
DOI: 10.3390/ijms26199597

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