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...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2019-08-01
|
| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-11526-w |
| _version_ | 1818841353263513600 |
|---|---|
| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T04:24:44Z |
| format | Article |
| id | doaj.art-d9d77439ba3644848ea443037e0b30ca |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-19T04:24:44Z |
| publishDate | 2019-08-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-d9d77439ba3644848ea443037e0b30ca2022-12-21T20:36:03ZengNature PortfolioNature Communications2041-17232019-08-0110111510.1038/s41467-019-11526-wSaturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolutionMartin Kircher0Chenling Xiong1Beth Martin2Max Schubach3Fumitaka Inoue4Robert J. A. Bell5Joseph F. Costello6Jay Shendure7Nadav Ahituv8Department of Genome Sciences, University of WashingtonDepartment of Bioengineering and Therapeutic Sciences, University of California San FranciscoDepartment of Genome Sciences, University of WashingtonBerlin Institute of Health (BIH)Department of Bioengineering and Therapeutic Sciences, University of California San FranciscoDepartment of Neurosurgery, University of California San FranciscoDepartment of Neurosurgery, University of California San FranciscoDepartment of Genome Sciences, University of WashingtonDepartment of Bioengineering and Therapeutic Sciences, University of California San FranciscoInterpreting 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.https://doi.org/10.1038/s41467-019-11526-w |
| spellingShingle | 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 Nature Communications |
| title | 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_short | 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 |
| url | https://doi.org/10.1038/s41467-019-11526-w |
| work_keys_str_mv | AT martinkircher saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT chenlingxiong saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT bethmartin saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT maxschubach saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT fumitakainoue saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT robertjabell saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT josephfcostello saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT jayshendure saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution AT nadavahituv saturationmutagenesisoftwentydiseaseassociatedregulatoryelementsatsinglebasepairresolution |