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Search: authors:"Ayal B. Gussow"

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Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

. Data curation: Ayal B. Gussow, Brett R. Copeland. Conceptualization: Ayal B. Gussow, Brett R. Copeland, Ryan S. Dhindsa, Quanli Wang, Slave Formal analysis: Ayal B. Gussow, Brett R. Copeland, Ryan S ... . Dhindsa, Quanli Wang, William H. Majoros. Methodology: Ayal B. Gussow, Brett R. Copeland, Ryan S. Dhindsa, Quanli Wang, Slave Petrovski, William H. Majoros, Andrew S. Allen, David B. Goldstein. Project

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

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 ...