Description

The Genome Research November issue is a special issue devoted to a subject of great current interest, Human Genome Variation. The human genome consists of 3 billion base pairs of DNA, the sequence of which is 99.9% identical between any two unrelated people. The sites in the remaining 0.1%, where the DNA sequence commonly varies among people, are important for understanding susceptibility to complex diseases such as diabetes, cancer, stroke, heart disease, and psychiatric disorders. This special issue is published concordant with Nature's publication of The International HapMap Consortium's haplotype map of the human genome, which is a public resource describing common genetic variation in the human genome expected to guide the design of studies aimed at finding variants contributing to human disease.

This issue includes reports on diverse topics relating to population structure, demography, evolution, and whole genome association testing, including large–scale recombination patterns and linkage disequilibrium among populations, ascertainment bias in human genome–wide studies, novel methodologies to identify single nucleotide polymorphisms (SNPs) associated with cis–acting regulatory variants, choosing tagging SNPs, using SNPs to identify regions of positive selection in human populations, the role of segmental duplications in genomic disorders and specific examples of how these studies yield biologically relevant results in the form of identified susceptibility loci for important human diseases. This special issue will also include a perspective on the determinants of success of whole genome association testing, A User's Guide to the HapMap Project website, and a poster that has been designed to be an educational resource demonstrating the data used to describe the patterns of human variation.