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    Article

    Multiplex assessment of protein variant abundance by massively parallel sequencing

    Determining the pathogenicity of genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands ...

    Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, Beth Martin in Nature Genetics (2018)

  2. Article

    Correction: Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types

    Nat. Med. 22, 1342–1350 (2016); published online 03 October 2016; corrected after print 19 July 2017; corrected after print 28 December 2017 In the version of this article initially published, the numbers on t...

    Ronald J Hause, Colin C Pritchard, Jay Shendure, Stephen J Salipante in Nature Medicine (2018)

  3. Article

    Correction: Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types

    Nat. Med. 22, 1342–1350 (2016); published online 3 October 2016; corrected after print 19 July 2017 In the version of this article initially published, in Figure 4d, the column labels UCED and STAD were inadve...

    Ronald J Hause, Colin C Pritchard, Jay Shendure, Stephen J Salipante in Nature Medicine (2017)

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    Article

    Map** 3D genome architecture through in situ DNase Hi-C

    Ramani et al. describe a protocol for in situ DNase Hi-C as an alternative to traditional Hi-C methods that use restriction enzymes. The use of DNase I for chromatin digestion circumvents the resolution limit imp...

    Vijay Ramani, Darren A Cusanovich, Ronald J Hause, Wenxiu Ma in Nature Protocols (2016)

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    Article

    Classification and characterization of microsatellite instability across 18 cancer types

    Systematic analysis of more than 5,900 human tumor exomes yields a new genomic classifier of microsatellite instability and insight into its prevalence and biological implications.

    Ronald J Hause, Colin C Pritchard, Jay Shendure, Stephen J Salipante in Nature Medicine (2016)

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    Article

    Saturation editing of genomic regions by multiplex homology-directed repair

    The authors perform saturation mutagenesis of genomic regions in their native endogenous chromosomal context by using CRISPR/Cas9 RNA-guided cleavage and multiplex homology-directed repair; its utility is demo...

    Gregory M. Findlay, Evan A. Boyle, Ronald J. Hause, Jason C. Klein, Jay Shendure in Nature (2014)