Genomics: Human Genetic Variation

This lecture covers the classes of human genetic variation, including common versus rare variants, neutrality, and different nucleotide composition classes. It also delves into the concrete example of blood types (A, B, AB, & O), explaining the transferases involved and the genetic basis. The lecture further explores why there are so many alleles for blood types and how these blood types are maintained, touching upon natural divergence, ancestry, climate, dietary habits, and disease links. Additionally, it discusses how single nucleotide polymorphisms (SNPs) are detected, focusing on reduced representation shotgun sequencing and the SNP database. The lecture concludes with an analysis of SNPs in different human genomes and the reasons behind the higher number of reported SNPs in the Yoruban genome.