用IDDB Xtra解读包括不孕症在内的综合知识库景观
Qian Li1, Zhijie Hu2, Jiayin He1
1Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai, 200011, China; Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai, 200025, China.
Computers in biology and medicine
|February 8, 2024
概括
不孕症影响全球15%的夫妇,通常是由于遗传原因. IDDB Xtra是一个新的数据库,整合了遗传,表观遗传和表型数据,以帮助不孕症诊断和治疗研究.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 生物信息学是一种生物信息学.
背景情况:
- 不孕症影响全球约15%的夫妇,遗传因素导致一半的病例.
- 现有的资源缺乏对不孕症相关数据的全面描述,这阻碍了深入的研究和遗传咨询.
- 高通量测序的进步需要综合的基因诊断平台和潜在的治疗策略.
研究的目的:
- 开发IDDB Xtra,一个增强的数据库,集成用于不孕症研究和遗传咨询的各种数据类型.
- 为研究人员和临床医生提供交互式工具,以探索不育机制,并促进遗传咨询.
主要方法:
- 将表型表现,基因组数据集,表观遗传学和调节器集成到现有的不孕症数据库 (IDDB).
- 2369个基因,273个染色体异常,884个表型,60个基因组数据集,464个表观遗传记录和1144个调节器的手动策划.
- 整合定制的图形应用程序来分析发育地图,突变效应和临床表现.
主要成果:
- IDDB Xtra 拥有与不孕症诊断和治疗相关的综合数据库.
- 交互式工具使用户能够在不同发育阶段探索基因功能,过候选基因并识别潜在的变异.
- 该平台促进了与不孕症相关的生物医学网络的检索,有助于了解疾病机制.
结论:
- IDDB Xtra 作为捕获和组织不孕症研究数据的宝贵资源.
- 集成的平台和交互式工具促进了遗传咨询,并加速了治疗不孕症的药物发现.
- IDDB Xtra是免费在线访问的,促进合作研究和生殖健康的临床应用.
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