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HapMap, a database and analysis resource of human variation

Tutorial and training materials by OpenHelix

Learn to use HapMap, a database and analysis resource of human variation. The HapMap project identified and cataloged genetic variation in human beings in four populations with African, Asian, and European ancestry. This freely available database and variation browser contains much of the known variation of the Human genome and researchers can use the data to determine variations that affect health, disease, and individual responses to medications and environmental factors. Learn to use the genome browser associated with this project to view HapMap data, retrieve genotypes and find frequencies for genomic regions.
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You'll learn:

  • to find SNPs of interest with advanced searching
  • how to determine linkage disequilibrium between SNPs
  • how to find candidate tag SNPs to better design genotyping assays
  • where to download and how to use the HaploView software for deeper SNP analysis


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Recent BioMed Central research articles citing this resource

Zhao Chenxi et al., Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population Epidemiology. BMC Cardiovascular Disorders (2014) doi:10.1186/1471-2261-14-6

Srinivas Lekshmy et al., Association of pro-inflammatory cytokine gene polymorphisms with schizophrenia in South Indian population Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG). Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-S1-P41

Tserel Liina et al., CpG sites associated with NRP1, NRXN2 and miR-29b-2 are hypomethylated in monocytes during ageing. Immunity Ageing (2014) doi:10.1186/1742-4933-11-1

Manconi Andrea et al., A tool for mapping Single Nucleotide Polymorphisms using Graphics Processing Units Integrated Bio-Search: Selected Works from the 12th International Workshop on Network Tools and Applications in Biology (NETTAB 2012) Integrated Bio-Search: 12th International Workshop on Network Tools and Applications in Biology (NETTAB 2012). BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-S1-S10

Shan Shan et al., ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese. Arthritis Research Therapy (2014) doi:10.1186/ar4530

More about the resource:

The International HapMap Project is a collaborative international effort of over 24 groups in six countries to identify and catalog human variation. The project has cataloged most of the probably 10 million SNPs estimated to occur in the Human Genome. The HapMap website includes a browser to view the SNP, haplotype, linkage disequilibrium and tag SNP data, an advanced search tool and software for deeper analysis. All data and tools are free and in the public domain.


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