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PhenoExplorer:一个交互式基于Web的平台,用于探索 (Epi) 基因组范围的关联,使用瑞士基于人口的研究

Jean-Pierre Ghobril¹, Dusan Petrovic², Georg Ehret³

¹Department of Epidemiology and Health Systems (DESS), University Center for General Medicine and Public Health (UNISANTE), Lausanne, Switzerland. jean-pierre.ghobril@unisante.ch.

|December 9, 2023

概括

大规模的基因组和表观基因组研究在瑞士人口中发现了数千个遗传标记和各种健康特征之间的关联. 这些发现现在可以通过PhenoExplorer平台访问,以便更广泛地用于研究.

科学领域:

遗传学和基因组学在
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
人口健康人口健康

背景情况:

高通量测序使得探索对复杂特征的遗传和表观遗传贡献成为可能.
基于人口的研究对于理解常见疾病和表型的遗传结构至关重要.

研究的目的:

在瑞士人口中进行大规模的全基因组关联研究 (GWAS) 和全表观基因组关联研究 (EWAS).
调查单核酸多态 (SNP) 和细胞--瓜 (CpG) 标记物与广泛的表型之间的关联.
开发一个可访问的基于Web的平台 (PhenoExplorer) 以共享研究结果.

主要方法:

利用了SKIPOGH队列 (N=1100) 的数据,包括750万个SNP,420,000个CpG和825个表型.
执行了SNP-代谢物/金属协会的GWAS和CpG-表型协会的EWAS.
调整了包括年龄,性别,招聘中心,家庭结构和EWAS季节性在内的共变量.

主要成果:

确定了2091个独特的SNP,与GWAS中的103个表型有显著的关联.
在EWAS中发现了2578种独特的CpG,与109种表型有显著的关联.
开发并推出PhenoExplorer网络平台,提供所有GWAS和EWAS结果的开放访问.

结论:

本研究提供了SNP和CpG与瑞士人口中复杂表型的关联的全面概述.
PhenoExplorer平台促进了对这些发现的访问,促进了进一步研究分子变异在人类健康中的作用.
这些结果有助于理解多种表型特征的遗传和表观遗传基础.

关键词:

欧洲商业联盟 (EWAS) 是一个国际组织.在GWAS中,GWAS就是GWAS.这就是PhenoExplorer.基于人口的基础上.斯基波格 (SKIPOGH) 是一个天堂.

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