“國(guó)際人類基因組單體型圖聯(lián)合項(xiàng)目組”是為繪制一個(gè)人類基因組單體型圖,、以描述DNA序列變化的共同模式而成立的?，F(xiàn)在,，該機(jī)構(gòu)已繪制出了其第三個(gè)單體型圖。第一個(gè)單體型圖（HapMap1）是2005年發(fā)表的,，含有超過(guò)100萬(wàn)個(gè)SNP（單核苷酸多態(tài)性）基因型,，是由來(lái)自4個(gè)不同地域的人群的269個(gè)個(gè)體產(chǎn)生的。兩年之后,，第二個(gè)單體型圖（HapMap2）為這269個(gè)個(gè)體的原始單體型圖中增添了超過(guò)210萬(wàn)個(gè)SNP,。
生物谷推薦相關(guān)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
第三個(gè)單體型圖（HapMap3）的目標(biāo)是，為最新一輪以疾病關(guān)聯(lián)為重點(diǎn)的全基因組研究提供一個(gè)資源,，所以其網(wǎng)撒得更寬,。大約160萬(wàn)個(gè)共同SNP在來(lái)自11個(gè)全球人群的1184個(gè)個(gè)體中被確定了基因型，并且10個(gè)100-kb的區(qū)域也在這些個(gè)體的692個(gè)當(dāng)中被測(cè)序,。（生物谷Bioon.com）
生物谷推薦英文摘要：
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.
