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基因组医学 - - 进展,陷和前景
Jay Shendure1, Gregory M Findlay2, Matthew W Snyder2
1Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Cell
|March 23, 2019
概括
基因组医学有望改变医疗保健, 更深入地了解基因型与表型的关系对于实现其全部潜力至关重要.
科学领域:
- 基因组医学
- 人类遗传学
- 医学研究
背景情况:
- 人类基因组项目 (HGP) 激发了对基因组学的高度期望,
- 基因组医学是一个新兴领域, 评估了它在满足这些期望方面的进展和挑战.
研究的目的:
- 评估基因组医学目前的影响和未来发展轨迹.
- 确定基因组学在哪些领域取得了成功,
- 探索该领域的意外发展.
主要方法:
- 这种观点综合了目前对基因组医学进展的了解和专家意见.
- 它涉及对应用基因组见解到临床实践中的成功,局限性和未来方向的批判性评估.
主要成果:
- 基因组学在特定领域正在实现其承诺,
- 需要重新评估前进的路径.
- 这一领域面临着将基因组数据完全转化为可操作的临床见解的挑战.
结论:
- 人们对基因组医学的变革潜力保持乐观态度,
- 对完整的基因型与表型关系的基础理解对于释放人类基因组学的全部好处至关重要.
- 为推进基因组医学,建议采用"回归基础"的方法,专注于基本的生物学理解.
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