eMERGE Pediatric Study at CCHMC. eMERGE Pediatric Study at CCHMC

This submission includes genotyping data from 6 separate cohorts (named A-E here), each is described in separate paragraphs below. Cohort A) Autism is a neurodevelopmental disorder that affects 1.5 million people in the United States, at an estimated lifetime cost of $4 million. It is part of Pervasive Developmental Disorder characterized by impairments in communication, language and reciprocal social interaction, and by unusual patterns of restricted and repetitive interests or behaviors. Autism, or autistic disorder, is the most severe form of the disease which has a wide range of symptom severity encompassed by the more inclusive term, Autism Spectrum Disorder (ASD). The prevalence of Autistic Disorder is currently estimated to be 4 per 1000, affecting 4 times more boys than girls. Susceptibility to autism is clearly attributable to genetic factors but the extensive clinical and genetic heterogeneity within the disorder have hindered efforts at genetic... (for more see dbGaP study page.)

本提交数据集包含6个独立队列的基因分型数据（本文中各队列依次命名为A至E），各队列的详细信息将在下文对应分段中逐一阐述。队列A：自闭症是一种神经发育障碍，在美国约影响150万人群，据估算其终身治疗总成本高达400万美元。该疾病隶属于全面发育障碍（Pervasive Developmental Disorder）范畴，核心临床表现为沟通、语言及双向社交互动障碍，同时伴随受限、重复的兴趣或行为模式。自闭症（又称孤独症）是该类疾病中症状最为严重的亚型，而涵盖范围更广的术语“自闭症谱系障碍（Autism Spectrum Disorder, ASD）”则包含了症状严重程度跨度极大的所有病例。目前孤独症的患病率约为4‰，男性患者人数约为女性的4倍。自闭症的易感性显然与遗传因素密切相关，但该疾病广泛的临床与遗传异质性已阻碍了相关遗传学研究的推进……（更多详情请参见dbGaP研究页面）