目前的人类遗传变异数据，如人类基因组单体型图(HapMap)，已被证实对人类遗传研究很有价值。运用单体型图和相关数据，科学家已经发现了100多个与人类常见疾病相关的基因组区域。
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人类基因组单倍体型图 Haplotype map
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.
Quintana - Murci博士的数据来自人类基因组单体型计划图，旨在对单核苷酸多态性，即SNPs进行归类。
Dr Quintana-Murci's data were drawn from a project called HapMap, which catalogues what are known as single-nucleotide polymorphisms, or SNPs.
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