2015年ACMG的变异解读标准与指南 (适用新手) 丨下篇

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根据2015年美国医学遗传学与基因组学学会(The American College of Medical Genetics and Genomics, ACMG)发布的序列变异解读指南进行翻译及解读，并对相关的内容注解 ，适用于新手阅读、温习、理解，大神请绕路。

大部分内容来源：

1.Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. 

2.王秋菊, 沈亦平, 邬玲仟, 等. 遗传变异分类标准与指南. 中国科学: 生命科学, 2017, 47: 668–688