Nuria Lopez-Bigas

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. ncbi request reprint Are splicing mutations the most frequent cause of hereditary disease?
    Nuria Lopez-Bigas
    Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
    FEBS Lett 579:1900-3. 2005
  2. pmc Genome-wide identification of genes likely to be involved in human genetic disease
    Nuria Lopez-Bigas
    Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
    Nucleic Acids Res 32:3108-14. 2004

Collaborators

Detail Information

Publications2

  1. ncbi request reprint Are splicing mutations the most frequent cause of hereditary disease?
    Nuria Lopez-Bigas
    Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
    FEBS Lett 579:1900-3. 2005
    ..This approach takes into account the complete set of genes known to be involved in disease and suggest that, contrary to current assumptions, many mutations causing disease may actually be affecting the splicing pattern of the genes...
  2. pmc Genome-wide identification of genes likely to be involved in human genetic disease
    Nuria Lopez-Bigas
    Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK
    Nucleic Acids Res 32:3108-14. 2004
    ..The probability score assignments for the human genome are accessible at http://maine.ebi. ac.uk:8000/services/dgp...