Author

Robert J.A. Bell

University of California, San Francisco

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Genetics· 1

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Beth MartiniD· 1 shared Chenling Xiong· 1 shared Fumitaka InoueiD· 1 shared J CostelloiD· 1 shared Jay ShendureiD· 1 shared Martin KircheriD· 1 shared Max SchubachiD· 1 shared Nadav AhituviD· 1 shared

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2018-2018 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Beth MartinORCID

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Recent·Most cited

Saturation mutagenesis of disease-associated regulatory elements

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

The paper performs saturation mutagenesis on disease-associated regulatory elements to assess the functional effects of mutations, revealing variability in transcription factor binding site density and predictive power of conservation scores.

bioRxiv · Dec 23, 2018 · PreprintGenetics