“国际人类基因组单体型图联合项目组”是为绘制一个人类基因组单体型图、以描述DNA序列变化的共同模式而成立的。现在，该机构已绘制出了其第三个单体型图。第一个单体型图（HapMap1）是2005年发表的，含有超过100万个SNP（单核苷酸多态性）基因型，是由来自4个不同地域的人群的269个个体产生的。两年之后，第二个单体型图（HapMap2）为这269个个体的原始单体型图中增添了超过210万个SNP。
生物谷推荐相关索引：The International HapMap Consortium.A haplotype map of the human genome.Nature.doi:10.1038/nature04226
The International HapMap Consortium.A second generation human haplotype map of over 3.1 million SNPs.Nature.doi:10.1038/nature06258
第三个单体型图（HapMap3）的目标是，为最新一轮以疾病关联为重点的全基因组研究提供一个资源，所以其网撒得更宽。大约160万个共同SNP在来自11个全球人群的1184个个体中被确定了基因型，并且10个100-kb的区域也在这些个体的692个当中被测序。（生物谷Bioon.com）
生物谷推荐英文摘要：
Nature doi:10.1038/nature09298
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called ‘HapMap 3’, includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of ≤5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
