为复杂的人类疾病绘制罕见和常见因果基因的映射
1Division of Genetics, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. soumya@broadinstitute.org
Cell
|October 4, 2011
概括
基因进步可以识别疾病风险变异. 了解这些遗传变异是如何导致糖尿病和癌症等复杂疾病的,对于开发新疗法和预防策略至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 复杂疾病研究 复杂疾病研究
背景情况:
- 基因型和测序技术已经推进了复杂疾病遗传学的研究.
- 现在可以识别与糖尿病,癌症和精神疾病等疾病相关的特定遗传变异 (罕见和常见).
研究的目的:
- 讨论目前用于绘制复杂疾病遗传变异的策略.
- 探索功能研究中优先考虑变体的方法.
- 检查对评估遗传变异对疾病影响的挑战和方法.
主要方法:
- 对绘制复杂疾病变体的现有策略的审查.
- 讨论功能研究的变异优先级技术.
- 探索评估变异对疾病表型贡献的方法.
主要成果:
- 目前的策略有效地绘制了与复杂疾病相关的遗传变异.
- 对于功能性研究来说,对变体的优先考虑对于机理学理解至关重要.
- 评估罕见和常见变异的贡献提出了挑战,需要具体的方法.
结论:
- 基因组技术通过识别风险变体,彻底改变了复杂疾病遗传学.
- 需要进一步的研究,以了解这些变体的因果机制,以治疗开发.
- 需要有效的策略来优先考虑和功能性评估疾病洞察力的遗传变异.
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