Reference Database Helps Scientists Estimate a Person's Genetic Repeats

There are many ways in which our genomes vary from one another, leading to differences in various traits or disease susceptibilities. Most researchers who want to uncover these differences focus on simple “spelling” mistakes in our DNA.

“Yet there are complex, repetitive parts of our genome that are also known to cause diseases, such as Huntington’s disease, and these parts of the genome are not analyzed in most large medical genetics studies,” said Melissa Gymrek, PhD, assistant professor at UC San Diego School of Medicine and Jacobs School of Engineering.

So Gymrek and her team built a reference database that allows researchers to estimate a person’s genome at these repetitive regions, even when they are not directly measured.

“This resource will enable analyzing the effects of repeat variation for the first time across hundreds of thousands of individuals on thousands of traits without the need to collect any additional data,” Gymrek said.

Read more about this new resource and its applications in Nature Communications, October 23:
https://www.nature.com/articles/s41467-018-06694-0

A reference haplotype panel for genome-wide imputation of short tandem repeats.