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Transcriptome and genome sequencing uncovers functional variation in humans

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  1. Article

    Open Access

    Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

    Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA- and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-indiv...

    Pedro G. Ferreira, Martin Oti, Matthias Barann, Thomas Wieland in Scientific Reports (2016)

  2. Article

    Open Access

    Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

    Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate c...

    Luis Zapata, Hana Susak, Oliver Drechsel, Marc R. Friedländer in Scientific Reports (2017)

  3. Article

    Open Access

    EXOSC10 is required for RPA assembly and controlled DNA end resection at DNA double-strand breaks

    The exosome is a ribonucleolytic complex that plays important roles in RNA metabolism. Here we show that the exosome is necessary for the repair of DNA double-strand breaks (DSBs) in human cells and that RNA c...

    Judit Domingo-Prim, Martin Endara-Coll, Franziska Bonath in Nature Communications (2019)

  4. Article

    Open Access

    Nuclear gene proximity and protein interactions shape transcript covariations in mammalian single cells

    Single-cell RNA sequencing studies on gene co-expression patterns could yield important regulatory and functional insights, but have so far been limited by the confounding effects of differentiation and cell c...

    Marcel Tarbier, Sebastian D. Mackowiak, João Frade in Nature Communications (2020)