Browsing by Author "Singh, Babita, 1986-"

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  • Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita, 1986-; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A.; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability ...
  • González-Vallinas Rostes, Juan, 1983-; Pagès Pinós, Amadís; Singh, Babita, 1986-; Eyras Jiménez, Eduardo (BioMed Central, 2015)
    Background. Transcriptional enhancers are generally known to regulate gene transcription from afar. Their activation involves a series of changes in chromatin marks and recruitment of protein factors. These enhancers may ...
  • Rambla de Argila, Jordi; Baudis, Michael; Ariosa, Roberto; Beck, Timothy; Fromont, Lauren A.; Navarro i Cuartiellas, Arcadi, 1969-; Paloots, Rahel; Rueda, Manuel; Saunders, Gary; Singh, Babita, 1986-; Spalding, J. Dylan; Törnoos, Juha; Vasallo, Claudia; Veal, Colin D.; Brookes, Anthony J. (Wiley, 2022)
    Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test the feasibility of broadly sharing human ...
  • Middleton, Robert; Gao, Dadi; Thomas, Aubin; Singh, Babita, 1986-; Au, Amy; Wong, Justin J.-L.; Bomane, Alexandra; Cosson, Bertrand; Eyras Jiménez, Eduardo; Rasko, John E.J.; Ritchie, William (BioMed Central, 2017)
    Intron retention (IR) occurs when an intron is transcribed into pre-mRNA and remains in the final mRNA. We have developed a program and database called IRFinder to accurately detect IR from mRNA sequencing data. Analysis ...
  • Sebestyén, Endre; Singh, Babita, 1986-; Miñana Gómez, Belén; Pagès Pinós, Amadís; Mateo, Francesc; Pujana, Miguel Angel; Valcárcel, J. (Juan); Eyras Jiménez, Eduardo (Cold Spring Harbor Laboratory Press (CSHL Press), 2016)
    Alternative splicing is regulated by multiple RNA-binding proteins and influences the expression of most eukaryotic genes. However, the role of this process in human disease, and particularly in cancer, is only starting ...
  • Singh, Babita, 1986- (Universitat Pompeu Fabra, 2017-05-11)
    RNA processing and their alterations are determinant to understand normal and disease cell phenotypes. In particular, specific alterations in the RNA processing of genes has been linked to widely accepted cancer hallmarks. ...
  • Trincado Alonso, Juan Luis, 1987-; Entizne, Juan Carlos; Hysenaj, Gerald; Singh, Babita, 1986-; Skalic, Miha, 1990-; Elliott, David Jack; Eyras Jiménez, Eduardo (BioMed Central, 2018)
    Despite the many approaches to study differential splicing from RNA-seq, many challenges remain unsolved, including computing capacity and sequencing depth requirements. Here we present SUPPA2, a new method that addresses ...
  • Freeberg, Mallory Ann; Fromont, Lauren A.; D'Altri, Teresa, 1984-; Jene, Aina; Moldes, Mauricio; Ariosa, Roberto; Fernández-Orth, Dietmar; Haziza, Frédéric; Martinez Llobet, Oscar; Milla, Gemma; Rueda, Manuel; Singh, Babita, 1986-; Torre, Sabela de la; Uyan, Umuthan; Vasallo, Claudia; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
    The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical ...
  • Singh, Babita, 1986-; Eyras Jiménez, Eduardo (Taylor & Francis (Routledge), 2017)
    The functional capacity of cells is defined by the transcriptome. Many recent studies have identified variations in the transcriptome of tumors due to alternative splicing changes, as well as mutations in splicing factors ...