PANGEN:一个在线平台,用于对比和创建诊断基因面板
Ofer Isakov1,2,3,4, Dina Marek-Yagel2, Rotem Greenberg2
1Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Zeev Jabotinsky 39, Petach Tikva 4941492, Israel.
概括
潘金集中的基因组数据,使得对比和创建诊断面板. 这个平台帮助研究人员根据表型关联和基因组特征选择基因.
科学领域:
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
背景情况:
- 向基因面板测序依赖于准确的基因表型关联,但由于数据不一致,当前的面板差异很大.
- 对基因-表型联系缺乏共识,使得有效的诊断基因小组的设计变得复杂.
研究的目的:
- 开发PANGEN,一个用于探索,比较和生成诊断基因面板的集中平台.
- 为识别具有强烈表型关联的基因和评估基因组特征 (如GC含量和重复) 提供资源.
主要方法:
- 收集了来自12个公共和商业来源的基因表型关联.
- 关于极端GC含量和重复的基因组区域的综合数据.
- 开发了用于面板相似性计算和智能面板生成的算法.
主要成果:
- 在1533个面板,9759个表型和6979个基因上编制了数据.
- 实现了面板比较,相似性搜索和定制面板生成的功能.
- 根据表型关联强度,启用生成面板的分层为"核心"和"扩展"基因组.
结论:
- 潘根为基因组探索和比较提供了一个独特的,集中的资源.
- 该平台通过可访问的Web服务器来促进定制诊断面板的创建.
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