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.

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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.

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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.

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