Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches

The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.13% of patients with schizophrenia, in 0.5–0.6% of patient with epilepsy, cognitive impairment, autism spec...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Paola Granata, Dario Cocciadiferro, Alessandra Zito, Chiara Pessina, Alessandro Bassani, Fabio Zambonin, Antonio Novelli, Mauro Fasano, Rosario Casalone
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-03-01
Subjects:	16p13.11 microdeletion copy number variants (CNVs) whole exome sequencing (WES) neurodevelopmental disorders protein-protein interactions (PPIs)
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.798607/full