Population Genetics & Genomics

What is a reference genome?

A digital database representing the standard DNA sequence of a species, used for comparison in genetic studies.

What are SNPs (Single Nucleotide Polymorphisms)?

Variations in a single base pair in DNA, common in the population and used to study genetic diversity.

How are SNPs used in population genetics?

By comparing SNP frequencies between populations to study genetic variation and ancestry.

What does a high SNP frequency in a population indicate?

Greater genetic diversity or a distinct evolutionary history.

What can genetic ancestry tests tell you?

The geographic and population origins of your ancestors based on SNP patterns in your DNA.

What is a population bottleneck?

A sharp reduction in population size that reduces genetic diversity.

What is the founder effect?

Reduced genetic variation that occurs when a small group establishes a new population.

Why is understanding population genetics important for medicine?

It helps identify population-specific disease risks and improves personalized treatment approaches.

What factors influence observed patterns of genetic diversity in humans?

Migration, natural selection, genetic drift, mutation, and population bottlenecks.