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原文連結
論文資訊
- 類型：已發表論文
- 日期：2014-11-05
摘要
Despite considerable 遺傳 heterogeneity underlying neurodevelopmental 疾病s, there is compelling evidence that many 疾病 genes will map to a much smaller number of 生物 sub網絡s. We developed a 計算 method, termed MAGI (merging affected genes into integrated 網絡s), that simultaneously integrates 蛋白質-蛋白質 interactions and RNA-seq expression profiles during 大腦 development to discover "modules" enriched for de novo 突變s in probands. We applied this method to recent exome sequencing of 1116 patients with autism and intellectual disability, discovering two distinct modules that differ in their properties and associated phenotypes. The first module consists of 80 genes associated with Wnt, Notch, SWI/SNF, and NCOR complexes and shows the highest expression early during embryonic development (8-16 post-concepti
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