如果把人类基因组视作“生命之书”，他们绘制了大量字母或短语的变异——但忽视了“书”中篇幅更大的整页乃至整章的删节和重复内容。
Looking at the human genome as a "book of life" they have mapped vast Numbers of variations in letters or short words - but missed much larger deletions and duplications of pages or chapters.
人类基因组拷贝数变异缺失在数量上也有很大的不同，有些人的缺失数甚至能达到几百万。
There is a wide variation in the amount of these CNV deletions which people have in their genome, with some people having several million.
研究者目前已详细了解了人类基因组中大约25,000个基因以及潜伏在这些基因中的300多万个常见变异。
Researchers now have a good reference guide for the 25, 000 or so genes of the human genome and the more than 3 million common variants that lurk within those genes.
一个人的基因组可看作是由含有30亿字母的文本构成，这三项研究都检测了人类基因组中单个“字母”的变异。
All three studies examined single "letter" changes in the 3-billion-letter transcript that makes up each person's genome.
人类基因组单体型图在检测在许多疾病涉及的基因变异方面的作用不言而喻并且这些结论也表明变异基因拷贝数指数也有类似的作用。
The HapMap has been invaluable in detecting variants involved in many diseases and these results suggest that the CNV index will prove similarly useful.
人类基因的常见变异会将较小影响累积，而对表型影响较大。
Common variants in the human genome may make a small impact which cumulatively may have a large impact on phenotype.
最初，三个核心课程被开发：序列相似性搜索、遗传变异和人类基因组资源。
Initially, three core courses were developed: Sequence Similarity Search, Genetic Variation, and Human Genome Resources.
研究者每次从模型中去除一项影响因素，来观察哪个因素对人类基因的变异影响最大。
The researchers removed the variables from the model one at a time, to see which would have the biggest impact on the predictive power of the model.
研究者每次从模型中去除一项影响因素，来观察哪个因素对人类基因的变异影响最大。
The researchers removed the variables from the model one at a time, to see which would have the biggest impact on the predictive power of the model.
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