Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Interpreting genetic variation in the noncoding genome remains challenging, with functional effects difficult to predict. Here, the authors perform saturation mutagenesis combined with massively parallel reporter assays for 20 disease-associated regulatory elements, quantifying the effects of over 3...

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Bibliographic Details
Main Authors: Martin Kircher, Chenling Xiong, Beth Martin, Max Schubach, Fumitaka Inoue, Robert J. A. Bell, Joseph F. Costello, Jay Shendure, Nadav Ahituv
Format: Article
Language:English
Published: Nature Portfolio 2019-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-11526-w

Internet

https://doi.org/10.1038/s41467-019-11526-w

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