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

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
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
Series:Frontiers in Genetics
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

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https://www.frontiersin.org/articles/10.3389/fgene.2022.798607/full

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