Abstract：
: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.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Chen C,Chen D,Xue H,Liu X,Zhang T,Tang S,Li W,Xu Xdoi
10.1016/j.neulet.2018.08.027subject
Has Abstractpub_date
2018-10-15 00:00:00pages
96-101eissn
0304-3940issn
1872-7972pii
S0304-3940(18)30573-1journal_volume
685pub_type
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