International HapMap Project

International HapMap Project maps common patterns of human DNA sequence variation to support studies of linkage disequilibrium, haplotype structure, genetic association with disease, and detection of natural selection.

Key Features:

• Genotype Mapping: Determines genotypes for over one million sequence variants in DNA samples from populations with ancestry in Africa, Asia, and Europe.
• Tag-SNP Selection: Identifies tag-SNPs for association studies to capture common genetic variation efficiently.
• Haplotype and LD Analysis: Characterizes haplotypes and analyzes linkage disequilibrium patterns and recombination rates across the genome.
• Detection of Natural Selection: Applies long-range haplotype methods and cross-population comparisons to identify regions and alleles subject to recent positive selection.
• Phase II SNP Catalog: Characterizes over 3.1 million SNPs in individuals from four geographically diverse populations, capturing a large fraction of common SNP variation and highlighting increased differentiation at non-synonymous SNPs.
• Ethical Considerations: Emphasizes involvement of population members in evaluating research risks and benefits associated with use of population samples.

Scientific Applications:

• Disease Research: Identifying sequence variants associated with disease to inform marker discovery and therapeutic research.
• Genetic Association Studies: Enabling selection of tag-SNPs to increase power and resolution of association analyses.
• Evolutionary Biology: Facilitating detection of alleles under positive selection to study recent human adaptations.
• Population Genetics: Providing data on population-specific variation and recombination patterns to investigate human genetic diversity.

Methodology:

Genotyping of sequence variants; characterization of >3.1 million SNPs; long-range haplotype analysis; cross-population comparisons; tag-SNP selection; haplotype visualization and linkage disequilibrium analysis; recombination rate estimation.