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.
研究人员发现,在个子比较矮的人身上,会出现低发生率拷贝数变异过剩——部分基因组缺失。
And the researchers found an excess of low frequency CNV deletions - where part of the genome is missing - in shorter people.
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.
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