Article
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Science (New York, N.Y.) - 28 Apr 2023
Kaplow Irene M, Lawler Alyssa J, Schäffer Daniel E, Srinivasan Chaitanya, Sestili Heather H, Wirthlin Morgan E, Phan BaDoi N, Prasad Kavya, Brown Ashley R, Zhang Xiaomeng, Foley Kathleen, Genereux Diane P, Karlsson Elinor K, Lindblad-Toh Kerstin, Meyer Wynn K, Pfenning Andreas R
Abstract excerpt
Protein-coding differences between species often fail to explain phenotypic diversity, suggesting the involvement of genomic elements that regulate gene expression such as enhancers. Identifying associations between enhancers and phenotypes is challenging because enhancer activity can be tissue-dependent and functionally conserved despite low sequence conservation. We developed the Tissue-Aware Conservation...
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