Article
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
PloS one - 1 Jan 2017
Gussow Ayal B, Copeland Brett R, Dhindsa Ryan S, Wang Quanli, Petrovski Slavé, Majoros William H, Allen Andrew S, Goldstein David B
Abstract excerpt
There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the...
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