Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Fiche publication

Date publication

avril 2020


Clinical genetics


Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick, Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Dr NAMBOT Sophie

Tous les auteurs :
Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Sorlin A, Denommé-Pichon AS, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C


Recent advances in Next-Generation Sequencing (NGS) technologies have revolutionized the field of human genetics. Alongside a broad panel of bio-informatics 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. This article is protected by copyright. All rights reserved.

Mots clés

Intellectual disability, NGS, OMICS, data-sharing


Clin. Genet.. 2020 Apr 26;: