Article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Human genetics - 1 Nov 2020
Tran Mau-Them Frederic, Moutton Sebastien, Racine Caroline, Vitobello Antonio, Bruel Ange-Line, Nambot Sophie, Kushner Steven A, de Vrij Femke M S, Lehalle Daphné, Jean-Marçais Nolwenn, Lecoquierre François, Delanne Julian, Thevenon Julien, Poe Charlotte, Jouan Thibaut, Chevarin Martin, Geneviève David, Willems Marjolaine, Coubes Christine, Houcinat Nada, Masurel-Paulet Alice, Mosca-Boidron Anne-Laure, Tisserant Emilie, Callier Patrick, Sorlin Arthur, Duffourd Yannis, Faivre Laurence, Philippe Christophe, Thauvin-Robinet Christel
Abstract excerpt
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the majority of patients affected by DD remain undiagnosed after solo-cES. Trio-based strategy is expected to facilitate variant...
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