Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
Alejandro Brea‐Fernández, Míriam Álvarez-Barona, Jorge Amigo, María Tubío-Fungueiriño, Pilar Caamaño, Montse Fernández‐Prieto, Francisco Barros, Silvia De Rubeis, Joseph D. Buxbaum, Ãngel Carracedo
Topics & Concepts
Intellectual disabilityExome sequencingGenetic diagnosisCohortGeneticsDNA sequencingExomeBiologyPopulationGenetic heterogeneityMedicineGeneMutationInternal medicinePhenotypeEnvironmental healthGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities