SNPs and human genetic variation

The following session will cover SNPs and Human Genetic Variation within the context of this subject, focusing on the definition and significance of single nucleotide polymorphisms (SNPs) as the most prevalent form of genetic variation. We will explain how SNPs serve as key markers for studying human diversity, evolution, and disease susceptibility, and highlight the methods used to detect and analyze them. The lecture will also discuss applications such as genome-wide association studies, polygenic risk scoring, and pharmacogenomics, underscoring their roles in personalized medicine. Finally, we will explore how ongoing advances in technology and large-scale sequencing projects are deepening our understanding of human genetics and health.. Single nucleotide polymorphisms, or SNPs, are positions in the genome where individuals may carry different DNA bases. These are the most common form of genetic variation, with about three to four million SNPs in each person compared to the reference sequence. Although the human genome is over ninety-nine percent identical across people, SNPs account for genetic diversity. Their abundance and stability make them excellent markers for exploring human evolution, ancestry, and variation in traits and diseases. A SNP is a variation at a single position in the DNA sequence present in at least one percent of the population. For a given SNP, most individuals might have, for example, a G at that position, while a minority may have a C. These changes can occur in both coding and non-coding regions and may be neutral or influence biological function.