What is a reference genome? How can it be used to survey genetic variation within a species?

Key Concepts

Reference Genome

A reference genome is a digital DNA sequence that serves as a representative example of a species' genetic makeup. It is constructed from the DNA of one or more individuals and provides a baseline for comparison in genomic studies. Researchers use reference genomes to identify genes, regulatory elements, and variations that may exist within a population.

Genetic Variation

Genetic variation refers to the differences in DNA sequences among individuals within a species. This variation can manifest as single nucleotide polymorphisms (SNPs), insertions, deletions, or structural changes. Understanding genetic variation is crucial for studying evolution, disease susceptibility, and traits within populations.

Genomic Survey Techniques

Genomic survey techniques involve methods such as whole-genome sequencing, genotyping, and comparative genomics to analyze genetic variation. These techniques allow researchers to compare individual genomes against the reference genome, identifying variations that contribute to phenotypic diversity and adaptation within a species.