Article
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
PLoS genetics - 1 Sept 2015
Petrovski Slavé, Gussow Ayal B, Wang Quanli, Halvorsen Matt, Han Yujun, Weir William H, Allen Andrew S, Goldstein David B
Abstract excerpt
Noncoding sequence contains pathogenic mutations. Yet, compared with mutations in protein-coding sequence, pathogenic regulatory mutations are notoriously difficult to recognize. Most fundamentally, we are not yet adept at recognizing the sequence stretches in the human genome that are most important in regulating the expression of genes. For this reason, it is difficult to apply to the regulatory regions the...
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