Article

Systematic Reconstruction of Autism Biology with Multi-Level Whole Exome Analysis

2016-05-11

Abstract excerpt

Whole exome/genome studies on autism spectrum disorder (ASD) identified thousands of variants, yet not a coherent and systematic disease mechanism. We conduct novel integrated analyses across multiple levels on ASD exomes. These mutations do not recur or replicate at variant level, but significantly and increasingly so at gene and pathway level. Genetic association reveals a novel gene+pathway dual-hit model, bett...

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Literature Corpus work: 33fd692c-4ad5-5ab9-bae9-b9d3f9d26aa4
DOI: 10.1101/052878

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