Ran Xia, Cai Wei-Jun, Huang Xiu-Feng, Liu Qi, Lu Fan, Qu Jia, Wu Jinyu, Jin Zi-Bing
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China.
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, ChinaInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China, Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou 325027, China and The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health People's Republic of China, Wenzhou 325027, China.
Database (Oxford). 2014 Jun 17;2014. doi: 10.1093/database/bau047. Print 2014.
Inherited retinal degeneration (IRD), a leading cause of human blindness worldwide, is exceptionally heterogeneous with clinical heterogeneity and genetic variety. During the past decades, tremendous efforts have been made to explore the complex heterogeneity, and massive mutations have been identified in different genes underlying IRD with the significant advancement of sequencing technology. In this study, we developed a comprehensive database, 'RetinoGenetics', which contains informative knowledge about all known IRD-related genes and mutations for IRD. 'RetinoGenetics' currently contains 4270 mutations in 186 genes, with detailed information associated with 164 phenotypes from 934 publications and various types of functional annotations. Then extensive annotations were performed to each gene using various resources, including Gene Ontology, KEGG pathways, protein-protein interaction, mutational annotations and gene-disease network. Furthermore, by using the search functions, convenient browsing ways and intuitive graphical displays, 'RetinoGenetics' could serve as a valuable resource for unveiling the genetic basis of IRD. Taken together, 'RetinoGenetics' is an integrative, informative and updatable resource for IRD-related genetic predispositions. Database URL: http://www.retinogenetics.org/.
遗传性视网膜变性（IRD）是全球人类失明的主要原因，具有异常的临床异质性和基因多样性。在过去几十年中，人们为探索这种复杂的异质性付出了巨大努力，随着测序技术的显著进步，已在导致IRD的不同基因中鉴定出大量突变。在本研究中，我们开发了一个综合数据库“视网膜遗传学（RetinoGenetics）”，其中包含有关所有已知IRD相关基因和IRD突变的信息性知识。“视网膜遗传学”目前包含186个基因中的4270个突变，以及来自934篇出版物的与164种表型相关的详细信息和各种类型的功能注释。然后利用各种资源对每个基因进行了广泛注释，包括基因本体论、KEGG通路、蛋白质-蛋白质相互作用、突变注释和基因-疾病网络。此外，通过使用搜索功能、便捷的浏览方式和直观的图形显示，“视网膜遗传学”可作为揭示IRD遗传基础的宝贵资源。综上所述，“视网膜遗传学”是一个关于IRD相关遗传易感性的综合、信息丰富且可更新的资源。数据库网址：http://www.retinogenetics.org/ 。
