遗传基因人口研究IT基础设施:一个支持基因组研究招聘和精确公共卫生的模型
David P Taylor1, Bret S E Heale2, Benjamin Chisum1
1Intermountain Health, Salt Lake City, UT.
AMIA ... Annual Symposium proceedings. AMIA Symposium
|January 15, 2024
概括
遗传基因人口研究使用先进的IT基础设施招募超过17万名参与者,识别疾病预防和治疗的遗传生物标志物. 这项大规模的基因组研究推动了精确的公共卫生计划.
科学领域:
- 基因组学就是基因组学.
- 人口健康 人口健康
- 生物标志物发现发现
背景情况:
- 遗传基因人口研究是一项大规模的研究计划.
- 开发了一个强大的IT基础设施来管理参与者入学和数据返回.
研究的目的:
- 确定用于疾病预防,诊断,预后和治疗开发的新型遗传生物标志物.
- 建立基因组研究和精确公共卫生的模型.
主要方法:
- 报名超过17万名参与者.
- 利用全面的IT基础设施进行参与者识别,同意,样本处理和结果返回.
- 在参与者样本上进行全基因组测序和基因型鉴定.
主要成果:
- 在5.87%的全基因组测序参与者和0.46%的基因型参与者中确定了致病变体.
- 证明了管理大规模基因组数据并将结果返回给参与者的能力.
结论:
- 该研究成功建立了基因组研究的可扩展模型.
- 这些发现支持通过大规模遗传研究来推进精确的公共卫生.
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