目标捕获和大规模并行测序12个人类外体
Sarah B Ng1, Emily H Turner, Peggy D Robertson
1Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. sarahng@u.washington.edu
Nature
|August 18, 2009
概括
有针对性的外体序列测定有效地识别出罕见和常见的遗传变异. 这种方法有助于发现孟德尔疾病的候选基因,即使样本大小小.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 常见的遗传变异解释了复杂疾病的有限遗传性.
- 针对罕见变异的全基因组测序目前对于大型队列来说是成本高昂的.
- 罕见的变异可能会对无法解释的遗传性产生重大影响.
研究的目的:
- 开发具有成本效益的第二代向性外基因组测序方法.
- 丰富用于发现高度透的遗传变异.
- 使用外体序列测序识别孟德尔疾病的候选基因.
主要方法:
- 目标捕获和大规模并行测序人类外体.
- 来自12名个体的测序外体,包括HapMap样本和患有弗里曼-谢尔登综合征 (FSS) 的患者.
- 敏感和特定的变体识别跨300兆基数的编码序列.
主要成果:
- 成功识别了罕见和常见的遗传变异.
- 证明了外体序列测序在识别孟德尔乱 (FSS) 候选基因中的实用性.
- 验证了测序方法的灵敏度和特异性.
结论:
- 向性外体序列测序是一种可行的策略,用于识别与疾病相关的变异.
- 小队列的外体序列测序可以揭示罕见的门德尔疾病的候选基因.
- 该方法显示了复杂遗传疾病的潜力,具有更大的样本大小和变异影响权重.
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