Genetic Architecture
Definition
Genetic architecture describes the combined contribution of all genetic influences on the trait. This includes how many genes are involved, how common different versions or variants of those genes are in a population, what the individual effect of each variant is on the trade as well as how those variants act together. Mapping out the genetic architecture of a trait can help us understand its evolution and underlying biology. For traits that are related to a disease, knowing the genetic architecture may help us identify people at risk or find treatments.
Narration
When we consider genetic differences among people, we usually think about single changes, individual nucleotides or base pairs to the sequence of DNA. But bigger structural changes in large chunks of DNA can also happen. Most of the genetic differences between any two people are single nucleotide changes numbering in the millions. A larger portion, however, of the total difference in DNA real estate between individuals is due to structural variants because they can be so large even though they only numbered in the thousands. If you think about the human genome like a book with 46 chapters, single nucleotide changes are many individual letter differences scattered between copies of the book. In contrast, structural variants can be differences in fragments of words, sentences, or even whole sets of paragraphs that can be copied, deleted, or shuffled around between pages or chapters. This means that structural variants - although less common - can nevertheless have large impact on the function of genomes.
