Now showing items 1-4 of 4

    • Deficient methylation and formylation of mt-tRNA$^{Met}$ wobble cytosine in a patient carrying mutations in NSUN3 

      Van Haute, Lindsey; Dietmann, Sabine; Kremer, Laura; Hussain, Shobbir; Pearce, Sarah F.; Powell, Christopher A.; Rorbach, Joanna et al. (Nature Publishing Group, 2016-06-30)
      Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized ...
    • Genomic islands of speciation separate cichlid ecomorphs in an East African crater lake 

      Malinsky, Milan; Challis, Richard J.; Tyers, Alexandra M.; Schiffels, Stephan; Terau, Yohey; Ngatunga, Benjamin P.; Miska, Eric A. et al. (2015-06-18)
      The genomic causes and effects of divergent ecological selection during speciation are still poorly understood. Here, we report the discovery and detailed characterization of early-stage adaptive divergence of two cichlid ...
    • Health and population effects of rare gene knockouts in adult humans with related parents 

      Narasimhan, Vagheesh M.; Hunt, Karen A.; Mason, Dan; Baker, Christopher L.; Karczewski, Konrad J.; Barnes, Michael R.; Barnett, Anthony H. et al. (American Association for the Advancement of Science, 2016-03-03)
      Examining complete gene knockouts within a viable organism can inform on gene function. We sequenced the exomes of 3222 British Pakistani-heritage adults with high parental relatedness, discovering 1111 rare-variant ...
    • The Sequence Ontology: a tool for the unification of genome annotations 

      Eilbeck, Karen; Lewis, Suzanna E.; Mungall, Christopher J.; Yandell, Mark D.; Stein, Lincoln; Durbin, Richard; Ashburner, Michael (2005-04-29)
      Abstract The Sequence Ontology (SO) is a structured controlled vocabulary for the parts of a genomic annotation. SO provides a common set of terms and definitions that will facilitate the exchange, analysis and management ...