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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Autores principales:	Martin Kircher, Chenling Xiong, Beth Martin, Max Schubach, Fumitaka Inoue, Robert J. A. Bell, Joseph F. Costello, Jay Shendure, Nadav Ahituv
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d9d77439ba3644848ea443037e0b30ca
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spelling	oai:doaj.org-article:d9d77439ba3644848ea443037e0b30ca2021-12-02T17:01:50ZSaturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution10.1038/s41467-019-11526-w2041-1723https://doaj.org/article/d9d77439ba3644848ea443037e0b30ca2019-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11526-whttps://doaj.org/toc/2041-1723Interpreting 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.Martin KircherChenling XiongBeth MartinMax SchubachFumitaka InoueRobert J. A. BellJoseph F. CostelloJay ShendureNadav AhituvNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Martin Kircher Chenling Xiong Beth Martin Max Schubach Fumitaka Inoue Robert J. A. Bell Joseph F. Costello Jay Shendure Nadav Ahituv Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
description	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.
format	article
author	Martin Kircher Chenling Xiong Beth Martin Max Schubach Fumitaka Inoue Robert J. A. Bell Joseph F. Costello Jay Shendure Nadav Ahituv
author_facet	Martin Kircher Chenling Xiong Beth Martin Max Schubach Fumitaka Inoue Robert J. A. Bell Joseph F. Costello Jay Shendure Nadav Ahituv
author_sort	Martin Kircher
title	Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
title_short	Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
title_full	Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
title_fullStr	Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
title_full_unstemmed	Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
title_sort	saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/d9d77439ba3644848ea443037e0b30ca
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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

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