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Journal / Genetics / 遗传变异的氨基酸级信噪比分析确定变异致病性的可能性…
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JoVE Journal Genetics
遗传变异的氨基酸级信噪比分析确定变异致病性的可能性
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遗传变异的氨基酸级信噪比分析确定变异致病性的可能性

Article DOI: 10.3791/58907-v • 07:15 min • January 16th, 2019
January 16th, 2019 •
1, 2
1Department of Pediatrics, Baylor College of Medicine, 2Department of Pediatrics, Division of Cardiology, Duke University School of Medicine

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氨基酸水平信噪比分析确定了在给定氨基酸位置的遗传变异的流行率归一化为特定种群的背景遗传变异。这样就可以识别蛋白质序列 (信号) 中的变种 "热点", 这些变化高于在人群 (噪声) 中发现的罕见变种的频率。

Tags

遗传学 第143期 遗传分析 基因检测 突变 拓扑结构 不确定意义的变种 整个外显子组测序
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