IMM250H1 Lecture Notes - Macular Degeneration, Wellcome Trust, Allele Frequency
Document Summary
Drift and founder effects in finland settled and grew quickly in short period of time. Decrease frequencies of some diseases because disease wasn"t there initially occurance of alleles can ebe so low see occasionally unusual allele frequencies the whole population in self-isolated communities due to religion, geography, etc. Across the world"s population, variants that cause mendelian disease very low are detected and investigated regularly because of high penetrancy can lead directly to disease because of the degree of consequence of the mutation . Alleles if there is common disease, common variant hypothesis basis and effect for generating the first hapmap projects and for deriving much of the technology or the genotype platforms used for looking at genetics of particular individuals. Appealing to look at common variants look at a lot of individuals but score alleles that occur at reasonable frequency readily . Common variant = alleles that occur in population of at least 10 percent.