Article

Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion

2017-09-20

Abstract excerpt

<h4>ABSTRACT</h4> As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other in conserved pathways to modulate expression of the phenotype. Using mult...

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Literature Corpus work: b4b41f76-4d97-5769-be6f-b114ae0ccdbf
DOI: 10.1101/185355

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