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Concept
International HapMap Project
Summary
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors. The information produced by the project is made freely available for research.
The International HapMap Project is a collaboration among researchers at academic centers, non-profit biomedical research groups and private companies in Canada, China (including Hong Kong), Japan, Nigeria, the United Kingdom, and the United States. It officially started with a meeting on October 27 to 29, 2002, and was expected to take about three years. It comprises two phases; the complete data obtained in Phase I were published on 27 October 2005. The analysis of the Phase II dataset was published in October 2007. The Phase III dataset was released in spring 2009 and the publication presenting the final results published in September 2010.
Unlike with the rarer Mendelian diseases, combinations of different genes and the environment play a role in the development and progression of common diseases (such as diabetes, cancer, heart disease, stroke, depression, and asthma), or in the individual response to pharmacological agents. To find the genetic factors involved in these diseases, one could in principle do a genome-wide association study: obtain the complete genetic sequence of several individuals, some with the disease and some without, and then search for differences between the two sets of genomes. At the time, this approach was not feasible because of the cost of full genome sequencing. The HapMap project proposed a shortcut.
Although any two unrelated people share about 99.5% of their DNA sequence, their genomes differ at specific nucleotide locations. Such sites are known as single nucleotide polymorphisms (SNPs), and each of the possible resulting gene forms is called an allele.
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