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Review
. 2020 Nov;98(5):433-444.
doi: 10.1111/cge.13764. Epub 2020 May 31.

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Ange-Line Bruel  1   2   3 , Antonio Vitobello  1   2 , Frédéric Tran Mau-Them  1   2 , Sophie Nambot  1   4 , Arthur Sorlin  1   2   4   5 , Anne-Sophie Denommé-Pichon  1   2   4 , Julian Delanne  1   4 , Sébastien Moutton  1   4 , Patrick Callier  1   2 , Yannis Duffourd  1   2 , Christophe Philippe  1   2 , Laurence Faivre  1   4 , Christel Thauvin-Robinet  1   2   3   4
Affiliations
Review

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Ange-Line Bruel et al. Clin Genet. 2020 Nov.

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.

Keywords: NGS; OMICS; data-sharing; intellectual disability.

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