Since the introduction of next‐generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of these rare disorders, we developed the Human Disease Genes website series (HDG website series): an international digital library that records detailed information on the clinical phenotype of novel genetic variants in the human genome (https://humandiseasegenes.info/). Each gene website is moderated by a dedicated team of clinicians and researchers, focused on specific genes, and provides up‐to‐date—including unpublished—clinical information. The HDG website series is expanding rapidly with 424 genes currently adopted by 325 moderators from across the globe. On average, a gene website has detailed phenotypic information of 14.4 patients. There are multiple examples of added value, one being the ARID1B gene website, which was recently utilized in research to collect clinical information of 81 new patients. Additionally, several gene websites have more data available than currently published in the literature. In conclusion, the HDG website series provides an easily accessible, open and up‐to‐date clinical data resource for patients with pathogenic variants of individual genes. This is a valuable resource not only for clinicians dealing with rare genetic disorders such as developmental delay and autism, but other professionals working in diagnostics and basic research. Since the HDG website series is a dynamic platform, its data also include the phenotype of yet unpublished patients curated by professionals providing higher quality clinical detail to improve management of these rare disorders.

中文翻译：

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人类疾病基因网站系列：一个国际化、开放、动态的最新临床信息库

自从引入下一代测序以来，越来越多的疾病被发现具有遗传病因。为了解决因识别这些罕见疾病而出现的各种临床问题和协调研究活动，我们开发了人类疾病基因网站系列（HDG 网站系列）：一个国际数字图书馆，记录有关新遗传变异临床表型的详细信息人类基因组 (https://humandiseasegenes.info/)。每个基因网站都由专门的临床医生和研究人员团队管理，专注于特定基因，并提供最新的（包括未发表的）临床信息。HDG 网站系列正在迅速扩展，目前全球 325 位版主采用了 424 个基因。一般，一个基因网站有14.4名患者的详细表型信息。附加值的例子有很多，其中之一是ARID1B基因网站，最近用于研究收集 81 名新患者的临床信息。此外，几个基因网站的可用数据比目前在文献中公布的数据多。总之，HDG 网站系列为具有单个基因致病变异的患者提供了一个易于访问、开放和最新的临床数据资源。这不仅是处理发育迟缓和自闭症等罕见遗传疾病的临床医生，而且是从事诊断和基础研究的其他专业人员的宝贵资源。由于 HDG 网站系列是一个动态平台，其数据还包括由专业人员管理的尚未发表的患者的表型，提供更高质量的临床细节以改善对这些罕见疾病的管理。