Article
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
Clinical genetics - 1 Nov 2020
Bruel Ange-Line, Vitobello Antonio, Tran Mau-Them Frédéric, Nambot Sophie, Sorlin Arthur, Denommé-Pichon Anne-Sophie, Delanne Julian, Moutton Sébastien, Callier Patrick, Duffourd Yannis, Philippe Christophe, Faivre Laurence, Thauvin-Robinet Christel
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.