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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

Takezawa Yasuko et al., Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan. BMC Medical Ethics (2014) doi:10.1186/1472-6939-15-33

Aguilar Helena et al., VAV3 mediates resistance to breast cancer endocrine therapy. Breast Cancer Research (2014) doi:10.1186/bcr3664

Liu Xuanyao et al., Evaluating the possibility of detecting evidence of positive selection across Asia with sparse genotype data from the HUGO Pan-Asian SNP Consortium Human and rodent genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-332

Vimaleswaran S Karani et al., Interaction between allelic variations in vitamin D receptor and retinoid X receptor genes on metabolic traits Complex traits and quantitative genetics. BMC Genetics (2014) doi:10.1186/1471-2156-15-37

Bai Haihua et al., A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-34

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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