疾病遗传性研究利用医疗保健系统实现大规模
Joshua C Denny1, Jonathan D Mosley1
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Cell
|June 16, 2018
概括
现在可以通过电子健康记录分析数百种特征. 这种方法利用大量的数据集来了解对疾病风险和变异性的遗传影响.
科学领域:
- 遗传学
- 生物医学信息学
- 公共卫生
背景情况:
- 遗传性研究对于了解疾病风险和特征变异的遗传贡献至关重要.
- 传统的方法往往面临规模和范围的限制.
- 电子健康记录 (EHR) 是一个庞大的,未被充分利用的数据来源.
研究的目的:
- 证明大规模EHR数据对进行遗传性研究的有用性.
- 探索采矿应急联系信息在遗传研究中的应用.
- 评估这种新方法在众多表型中的广泛适用性.
主要方法:
- 使用电子健康记录的大量数据集.
- 应用计算方法来分析数百种表型.
- 将紧急联系信息挖掘的结果与已知的黄金标准进行比较.
主要成果:
- 通过使用EHR数据成功进行大规模的遗传性研究.
- 证明挖掘基因洞察的紧急联系信息的可行性和准确性.
- 展示了基于EHR的方法的广泛实用性和可扩展性.
结论:
- 大规模的电子健康记录数据可以有效地用于全面的遗传性研究.
- 挖掘紧急联系信息是遗传研究中一个有价值的,广泛适用的方法.
- 这种方法显著提高了对健康和疾病遗传影响的发现潜力.
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