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

Martin Kircher; Chenling Xiong; Beth Martin; Max Schubach; Fumitaka Inoue; Robert J. A. Bell; Joseph F. Costello; Jay Shendure; Nadav Ahituv

doi:10.1038/s41467-019-11526-w

Nature Communications (Aug 2019)

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

Martin Kircher,
Chenling Xiong,
Beth Martin,
Max Schubach,
Fumitaka Inoue,
Robert J. A. Bell,
Joseph F. Costello,
Jay Shendure,
Nadav Ahituv

Affiliations

Martin Kircher: Department of Genome Sciences, University of Washington
Chenling Xiong: Department of Bioengineering and Therapeutic Sciences, University of California San Francisco
Beth Martin: Department of Genome Sciences, University of Washington
Max Schubach: Berlin Institute of Health (BIH)
Fumitaka Inoue: Department of Bioengineering and Therapeutic Sciences, University of California San Francisco
Robert J. A. Bell: Department of Neurosurgery, University of California San Francisco
Joseph F. Costello: Department of Neurosurgery, University of California San Francisco
Jay Shendure: Department of Genome Sciences, University of Washington
Nadav Ahituv: Department of Bioengineering and Therapeutic Sciences, University of California San Francisco

DOI: https://doi.org/10.1038/s41467-019-11526-w
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 15

Abstract

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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 30,000 variants.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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