Abstract：
Infertility affects ∼15% of couples globally and half of cases are related to genetic disorders. Despite growing data and unprecedented improvements in high-throughput sequencing technologies, accumulated fertility-related issues concerning genetic diagnosis and potential treatment are urgent to be solved. However, there is a lack of comprehensive platforms that characterise various infertility-related records to provide research applications for exploring infertility in-depth and genetic counselling of infertility couple. To solve this problem, we provide IDDB Xtra by further integrating phenotypic manifestations, genomic datasets, epigenetics, modulators in collaboration with numerous interactive tools into our previous infertility database, IDDB. IDDB Xtra houses manually-curated 2369 genes of human and nine model organisms, 273 chromosomal abnormalities, 884 phenotypes, 60 genomic datasets, 464 epigenetic records, 1144 modulators relevant to infertility diagnosis and treatment. Additionally, IDDB Xtra incorporated customized graphical applications for researchers and clinicians to decipher in-depth disease mechanisms from the perspectives of developmental atlas, mutation effects, and clinical manifestations. Users can browse genes across developmental stages of human and mouse, filter candidate genes, mine potential variants and retrieve infertility biomedical network in an intuitive web interface. In summary, IDDB Xtra not only captures valuable research and data, but also provides useful applications to facilitate the genetic counselling and drug discovery of infertility. IDDB Xtra is freely available at https://mdl.shsmu.edu.cn/IDDB/and http://www.allostery.net/IDDB.
摘要：
不孕症影响全球约15％的夫妇，一半的病例与遗传疾病有关。尽管数据不断增长，高通量测序技术取得了前所未有的进步，与遗传诊断和潜在治疗有关的积累的生育相关问题迫切需要解决。然而,缺乏全面的平台来描述各种与不孕症相关的记录，以提供深入探索不孕症和不孕症夫妇遗传咨询的研究应用。为了解决这个问题,我们通过进一步整合表型表现来提供IDDBXtra，基因组数据集，表观遗传学,调制器与许多互动工具合作进入我们以前的不孕症数据库，IDDB。IDDBXtra包含了人类和九种模式生物的2369个基因，273个染色体异常，884个表型,60个基因组数据集，464个表观遗传记录，1144个与不孕症诊断和治疗相关的调节剂。此外,IDDBXtra整合了定制的图形应用程序，供研究人员和临床医生从发育图谱的角度解读深入的疾病机制，突变效应,和临床表现。用户可以浏览人类和小鼠发育阶段的基因，筛选候选基因，挖掘潜在的变种并在直观的Web界面中检索不育生物医学网络。总之,IDDBXtra不仅捕获有价值的研究和数据，而且还提供了有用的应用程序，以促进遗传咨询和药物发现不孕症。IDDBXtra可在https://mdl免费获得。shsmu.edu.cn/IDDB/和http://www。allostery.net/IDDB。
