Hap Map Project - Bgbunict.it

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Non-coding SNPs: 5’ and 3’ UTRs Introns Intergenic Spaces Non-synonymous Coding SNPs: when single base subst<strong>it</strong>utions cause a change in the resultant amino acid Synonymous Coding SNPs: when single base subst<strong>it</strong>utions do not cause a change in the resultant amino acid
Non-coding SNPs Example: Regulatory SNPs (rSNPs) Two allelic variants of the same gene are transcribed in different amounts as a consequence of an adjacent polymorphism. In this example, allele G, located upstream of the gene, has a higher transcript level than does allele T.
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: In principle, SNPs could be bi-, tr
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 and 24: Many empirical studies have shown h
Page 25: The International HapMap Project is
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

Hap Map Project - Bgbunict.it

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