Characterizing epistatic hotspots of human disease

Beyond the Genome 2012

生物科学;医药卫生

Tallulah Andrews ; Caleb Webber

Others  :  http://www.biomedcentral.com/content/pdf/1753-6561-6-S6-O12.pdf
PID  :  26614

来源: CEUR

【 摘 要 】

We recently reported that single de novo copy number variants (CNVs) in patients with developmental disorders frequently affected multiple functionally similar genes [1]. Since functional clusters are present in many eukaryotic species, including humans [2], a single CNV can affect multiple genes, potentially incurring additional deleterious effects due to epistatic interactions. Furthermore, the position of genes within a biological pathway may be relevant to the phenotypic impact of their disruption [3]. In this study, we investigated the roles that epistatic interactions and the network position of disrupted genes play in developmental disorders. [Background]