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Updated: Dec 23, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual
Ange-Line Bruel1,2,3, Antonio Vitobello1,2, Frédéric Tran Mau-Them1,2
1Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.
Abstract:
Recent advances in next-generation sequencing (NGS) technologies have revolutionized the field of human genetics. Alongside a broad panel of bioinformatics tools and databases, NGS technologies have unprecedentedly improved the molecular diagnosis rate and the identification of new genes associated with rare disorders. However, about 50% of patients remain without a final diagnosis. Here, we highlight the utility of NGS applications in developmental anomalies and intellectual disability, illustrating their main advantages and pitfalls. Through specific examples, we suggest novel strategies and tools for identifying the molecular bases in the remaining patients, and we outline future challenges.
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