在神经退行性疾病中整合全基因组和全转录组关联研究:机遇,挑战和当前的方法创新
Si Chun Gu1,2, Thomas Welton1, QiaoYang Sun1
1Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Central Region, Singapore 308433, Singapore.
Briefings in bioinformatics
|July 22, 2025
概括
本综述探讨了神经退行性疾病 (ND) 的全基因组关联研究 (GWAS) 和全转录组关联研究 (TWAS). 它强调了利用遗传数据来理解和治疗这些复杂疾病的方法论进步和挑战.
科学领域:
- 遗传学和基因组学 在
- 神经科学是一个神经科学.
- 计算生物学 计算生物学
背景情况:
- 像阿尔茨海默氏症和帕金森症这样的神经退行性疾病 (NDs) 有复杂的遗传基础.
- 全基因组关联研究 (GWAS) 确定与疾病相关的变异.
- 全转录组关联研究 (TWAS) 将基因表达与疾病风险联系起来.
研究的目的:
- 在神经退行性疾病研究中提供GWAS和TWAS的全面概述.
- 分析这些遗传方法的方法发展和整合应用.
- 识别该领域的新兴趋势和挑战.
主要方法:
- 图书统计分析用于绘制研究趋势的地图.
- 对GWAS和TWAS假设,优势和框架进行比较分析.
- 审查最近的TWAS方法进步 (例如,精细映射,多组织/单细胞建模,多omics集成,AI/ML).
主要成果:
- 确定了NDs遗传学的不断发展的研究趋势和重点领域.
- 详细比较GWAS和TWAS的方法.
- 突出了TWAS的进步,包括复杂的建模和AI集成.
- 概述了祖先代表性,参考面板多样性和翻译适用性的挑战.
结论:
- 综合了GWAS和TWAS对NDs的方法格局.
- 为未来的综合性遗传分析提供了指导.
- 倡导转录组知情遗传方法在NDS研究和治疗中的更广泛应用.
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