In celebration of its 20th anniversary, the scientific journal Genome Research features a series of essays from various scientists giving their perspectives on the field of genomics. HudsonAlpha faculty investigator Greg Cooper, PhD, discusses the challenge of variant interpretation in, “Parlez-vous VUS?”

Variants of uncertain significance (VUS) are variations in the genetic sequence whose association with disease risk is unknown, and also not known to be benign.

“This has been a major theme for all of my research. When you sequence someone’s DNA, you get lots of changes, so the question is how do you find the ones that are making someone sick?” Cooper explains.

While great strides have been made in genomics and in understanding how variations in genes contribute to our health and to diseases, Cooper says there are still major analytical challenges that at this time are limiting to the potential benefits of genomic sequencing.

“It’s a frustrating thing. If you do any kind of human genetics, you’re always going to get variants that are useful, and some that are irrelevant, so this essay is a comment about that grey area that we have to deal with.”

Moving forward, researchers will need to continue to develop and refine useful, predictive algorithms for identifying variants that give relevant insight to a person’s health and in doing so, will “help facilitate more insightful assessments of the contributions of genetic variants to disease.”

Download the October issue of Genome Research and read the full essay here.

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