Browsing by Author "Uszczynska-Ratajczak, Barbara"

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  • Altimiras, Francisco; Uszczynska-Ratajczak, Barbara; Cámara, Francisco; Vlasova, Anna; Palumbo, Emilio; Newhouse, Stephen; Deacon, Robert M. J.; Farias, Leandro A. E.; Hurley, Michael J.; Loyola, David E.; Vásquez, Rodrigo A.; Dobson, Richard; Guigó Serra, Roderic; Cogram, Patricia (Frontiers, 2017)
  • Frankish, Adam; Uszczynska-Ratajczak, Barbara; Ritchie, Graham R. S.; González, José M.; Pervouchine, Dmitri D.; Petryszak, Robert; Mudge, Jonathan M.; Fonseca, Nuno; Brazma, Alvis; Guigó Serra, Roderic; Harrow, Jennifer (BioMed Central, 2015)
    Background: A vast amount of DNA variation is being identified by increasingly large-scale exome and genome sequencing projects. To be useful, variants require accurate functional annotation and a wide range of tools are ...
  • Lagarde, Julien; Uszczynska-Ratajczak, Barbara; Santoyo-Lopez, Javier; Gonzalez, Jose Manuel; Tapanari, Electra; Mudge, Jonathan M.; Steward, Charles A.; Wilming, Laurens; Tanzer, Andrea; Howald, Cédric; Chrast, Jacqueline; Vela-Boza, Alicia; Rueda, Antonio; Lopez-Domingo, Francisco J.; Dopazo, Joaquín; Reymond, Alexandre; Guigó Serra, Roderic; Harrow, Jennifer (Nature Publishing Group, 2016)
    Long non-coding RNAs (lncRNAs) constitute a large, yet mostly uncharacterized fraction of the mammalian transcriptome. Such characterization requires a comprehensive, high-quality annotation of their gene structure and ...
  • Lagarde, Julien; Uszczynska-Ratajczak, Barbara; Carbonell, Silvia; Pérez-Lluch, Sílvia; Davis, Carrie A.; Gingeras, Thomas R.; Frankish, Adam; Harrow, Jennifer; Guigó Serra, Roderic; Johnson, Rory (Nature Research, 2017)
    Accurate annotation of genes and their transcripts is a foundation of genomics, but currently no annotation technique combines throughput and accuracy. As a result, reference gene collections remain incomplete-many gene ...
  • Steward, Charles A.; Uszczynska-Ratajczak, Barbara; Guigó Serra, Roderic; Frankish, Adam (Nature Research, 2019)
    The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, ...