Chen Chong, Chen Denghui, Xue Huangqi, Liu Xinting, Zhang Tao, Tang Shaohua, Li Wei, Xu Xueqin
Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, 325000, China.
Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, 325035, China.
Neurosci Lett. 2018 Oct 15;685:96-101. doi: 10.1016/j.neulet.2018.08.027. Epub 2018 Aug 23.
Intellectual disability (ID) is one of the most prevalent chronic developmental brain disorders or phenotype of syndromic ID, affecting nearly 1-2% of the general population worldwide. Over recent decades, tremendous effort and high-throughput platforms have been devised to explore the complex heterogeneity, numerous genes and variants have been associated with the ID, especially de novo mutations and copy number variants. An organized resource containing the increasing genetic data is imperative to assist ID research. In this study, the integrative and annotated intellectual disability database has been developed, named 'IDGenetics', which contains known information about ID, including 815 genes and 17102 variants associated with 918 clinical diseases (3001 clinical phenotype) collected from 3822 publications and ID-related databases. Furthermore, in-depth data mining was performed to obtain an understanding of each entry, including functional annotation, gene/disease/phenotype network establishment and overlap analysis focusing on comorbidity. 1478 candidate genes (483 high-confidence and 995 low-confidence) were collected and prioritized by adopting the annotations of 12 functional prediction tools and algorithm. In addition, IDGenetics database provides concise search methods, convenient browsing functions, intuitive graphical displays and constantly updated features. IDGenetics will be a valuable and integrative resource for deciphering the genetic and functional architecture of ID and the improvement of clinical diagnosis, intervention and treatment.
智力残疾(ID)是最常见的慢性发育性脑疾病之一,或是综合征性ID的一种表型,影响着全球近1%-2%的普通人群。在最近几十年里,人们付出了巨大努力并设计了高通量平台来探索其复杂的异质性,众多基因和变异已与ID相关联,尤其是新发突变和拷贝数变异。一个包含不断增加的遗传数据的有序资源对于辅助ID研究至关重要。在本研究中,已开发了一个综合且带注释的智力残疾数据库,名为“IDGenetics”,它包含有关ID的已知信息,包括从3822篇出版物和ID相关数据库中收集的与918种临床疾病(3001种临床表型)相关的815个基因和17102个变异。此外,还进行了深入的数据挖掘以了解每个条目,包括功能注释、基因/疾病/表型网络建立以及针对共病的重叠分析。通过采用12种功能预测工具和算法的注释,收集并对1478个候选基因(483个高可信度和995个低可信度)进行了优先级排序。此外,IDGenetics数据库提供了简洁的搜索方法、便捷的浏览功能、直观的图形显示以及不断更新的特性。IDGenetics将成为解读ID的遗传和功能结构以及改善临床诊断、干预和治疗的宝贵且综合的资源。