Editor's Summary
27 October 2005
The hapmap project
Humans are identical at most of the 3 billion base pairs in their genome, but focusing on the 300,000 to 600,000 key changes that separate us is already leading to genetic disease identification and treatments. These changes in single nucleotides often travel in blocks, or haplotypes. The International HapMap Project has mapped the haplotypes in several human populations based on over a million single changes, and the first fruits of their work are published in a landmark paper this week. The cover depicts part of the genome around the CFTR (cystic fibrosis) gene for three geographic populations. You can see clear breaks in the blocks of variation that each population shares within itself (dark colours) and regions of the genome that have changed more over time and not travelled in blocks (the intervening grey lines). The vast resource of genomic variation is freely available to the public via http://www.hapmap.org.
News and Views: Genomics: Understanding human diversity
The first edition of a massive catalogue of human genetic variation is now complete. The long-term task is to translate these data into an understanding of the effects of that variation on human health.
David B. Goldstein and Gianpiero L. Cavalleri
doi:10.1038/4371241a
Article: A haplotype map of the human genome
The International HapMap Consortium
doi:10.1038/nature04226
Abstract | Full Text | PDF (1,269K) | Supplementary information