MGY299Y1 Lecture Notes - Human Genome Diversity Project, International Hapmap Project, Dbsnp
3 Jun 2013
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Mgy470 lecture 07 january 29, 2013. Used in human genetic studies using phenotype data . Classical definition of polymorphism population geneticists define it as greater than 1% Molecular biologists define it differently refer to dna sequence variation with no functional. Encode project 80% of human genome has functional consequences most of genome is. Allele frequency less than one percent ex. Common mutation in cystic fibrosis gene delta f508 one called mutation, others call polymorphism. Classify genetic variation/markers based on how many alleles. Microsatellite, minisattellite, cnv from left to right increasing in size. Classification not entirely correct some snp have two alleles in tehroy, for single base pair, four alleles most snps biallelic. Snps very old rare de novo mutations inherited from parents mostly. Database of snps dbsnp part of ncbi dbsnp collect subissions identify the ones that are identical so all given same name.
