eP338: Efficacy of next generation sequencing data reanalysis in unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis

Over the past decade, next generation sequencing (NGS) has revolutionized the diagnosis of Mendelian disorders. By simultaneously testing all known disease-causing and potentially novel genes in a hypothesis-free manner, it has led to significant improvements in both diagnostic yield and turnaround time compared to traditional approaches such as targeted Sanger sequencing of candidate genes. However, despite these improvements, more than 50% of cases typically remain unsolved after initial NGS analysis.