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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

Linderman D Michael et al., Analytical validation of whole exome and whole genome sequencing for clinical applications Bioinformatic and algorithmical studies. BMC Medical Genomics (2014) doi:10.1186/1755-8794-7-20

Melchiotti Rossella et al., Genetic analysis of an allergic rhinitis cohort reveals an intercellular epistasis between FAM134B and CD39 Genetic epidemiology and genetic associations. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-73

McRae M Kathryn et al., Signatures of selection in sheep bred for resistance or susceptibility to gastrointestinal nematodes Non-human and non-rodent vertebrate genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-637

Pardo-Seco Jacobo et al., Evaluating the accuracy of AIM panels at quantifying genome ancestry Human and rodent genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-543

Rungroj Nanyawan et al., A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease Genetic epidemiology and genetic associations. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-50

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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