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Article

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Neuron - 2 Mar 2016

Takata Atsushi, Ionita-Laza Iuliana, Gogos Joseph A, Xu Bin, Karayiorgou Maria

Abstract excerpt

We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs) and schizophrenia (SCZ) with potential impact on regulatory elements using data from whole-exome sequencing (WESs) studies. Focusing on five types of genetic regulatory functions, we found that de novo near-splice site synonymous mutations changing exonic splicing regulators and those within frontal cortex-derived DNase I...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26938441
DOI: 10.1016/j.neuron.2016.02.024
PMCID: PMC4793939

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