测量噪声对遗传关联研究对心脏功能研究的影响
Milos Vukadinovic1, Gauri Renjith, Victoria Yuan
1Department of Cardiology, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, United States2Department of Bioengineering, University of California Los Angeles, Los Angeles, CA, United States4Biomedical Imaging Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|December 31, 2023
概括
现型化中的测量错误,如左心室喷射率 (LVEF),可以显著影响全基因组关联研究 (GWAS). 提高表型准确度对于强大的遗传发现至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 心血管成像 - 心血管成像
- 生物统计学 生物统计学
背景情况:
- 定量成像特征增强全基因组关联研究 (GWAS) 的疾病生物学和特征理解.
- 对遗传分析至关重要的表型定型易受测量误差和噪声的影响,可能导致结果混.
研究的目的:
- 调查表型不准确对使用左心室喷射分数 (LVEF) 作为模型特征的遗传研究的影响.
- 量化测量噪声和LVEF误差对GWAS功率和可靠性的影响.
主要方法:
- 评估了获取LVEF测量的多种方法.
- 模拟了不同级别的测量噪声和LVEF数据中的误差.
- 评估了这些模拟的缺陷对GWAS的后果,结果在一个大队列中.
主要成果:
- 在LVEF数据中引入7.9%的测量噪声消除了近4万个人的GWAS中的所有遗传关联.
- 对于LVEF来说,平均绝对误差 (MAE) 的1%增加降低了GWAS功率,与队列样本大小减少10%相比.
结论:
- 表型测量准确性对于全基因组关联研究的成功至关重要.
- 在像LVEF这样的定量特征中最大限度地减少错误和噪音对于最大限度地提高遗传发现和确保可靠的发现至关重要.
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