Hap Map Project - Bgbunict.it

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The strong associations between SNPs in a region have a practical value Genotyping only a few, carefully chosen SNPs in the region will provide enough information to predict much of the information about the remainder of the common SNPs in that region. As a result, only a few of these ‘tag’ SNPs are required to identify each of the common haplotypes in a region. On the basis of empirical studies, it has been estimated that most of the information about genetic variation represented by the 10 million common SNPs in the population could be provided by genotyping 200.000 to 1.000.000 tag SNPs across the genome These observations are the conceptual and empirical foundation for developing a haplotype map of the human genome, the ‘HapMap’.
The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals. An initial meeting to discuss the scientific and ethical issues associated with developing a human haplotype map was held in Washington in 2001. The International HapMap Project was then formally initiated in 2002.
Page 1 and 2: The International HapMap Project An
Page 3 and 4: Genetic and environmental contribut
Page 5 and 6: Discovering these genetic factors w
Page 7 and 8: Human Genetic Variations Primarily
Page 9 and 10: SNPs Sites in the genome where the
Page 11 and 12: Polymorphism A sequence variation t
Page 13 and 14: In principle, SNPs could be bi-, tr
Page 15 and 16: Non-coding SNPs Example: Regulatory
Page 17 and 18: Coding SNPs Example: Non-synonymous
Page 19 and 20: A particular combination of alleles
Page 21 and 22: Linkage disequilibrium Situation i
Page 23: Many empirical studies have shown h
Page 28 and 29: The HapMap was designed to determin
Page 30 and 31: The International HapMap Consortium
Page 32 and 33: The project had become practical by
Page 34 and 35: The Phase I HapMap Phase I of the H
Page 36 and 37: To study patterns of genetic variat
Page 38 and 39: They estimate that genotypes relate
Page 40 and 41: Genotyping in phase II was attempte
Page 42 and 43: Variation in SNP density within the
Page 44 and 45: Studies in additional populations h
Page 46 and 47: APPLICATION OF THE HAPMAP TO COMMON
Page 48 and 49: The history of high-density GWA sca
Page 50 and 51: A genome-wide association study ide
Page 52 and 53: Beyond SNPs: Copy Number Variants a
Page 54 and 55: Although not as common as SNPs, the
Page 56 and 57: In 2004, the interrogation of genom
Page 58 and 59: It is now recognized that the genom
Page 60: Bibliografia The International HapM

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