I am working in the biomedical informatics field since the year 2012. My research focuses on the application and development of tools using semantic technologies to understand the mechanisms underpinning diseases.
  • July 2020: Our work “Modeling quantitative traits for COVID-19 case reports” presented at the ISMB 2020 Bio-Ontologies COSI track: [slides][Poster]
  • June 2020: Our paper “A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media” published at Genomics & Informatics
  • May 2020: Our abstract “Modeling quantitative traits for COVID-19 case reports” accepted for a long talk and poster at ISMB 2020 as part of the Bio-Ontologies COSI: [abstract][medRxiv]
  • April 2020:  Our paper “Structured reviews for data and knowledge-driven research” published at Database Volume 2020
Curriculum Vitae: [academic][professional]
Updated 2020/03
Research interests
Developing semantic resources and applying artificial intelligence and data science methodologies to leverage the biomedical big data for discovery and translational research. My methodological work lies in:
  • data management, data modeling, and data integration.
  • semantic technologies for knowledge representation, data interoperability and computational reasoning.
  • development of interoperable bioinformatic tools and reproducible workflows.
  • knowledge discovery based on evidence:
    • applying artificial intelligence methods on knowledge graphs for hypothesis generation.
    • developing semantic web tools harnessing the web of linked data.
    • metadata description to enhance discovery in science based on evidence.
My applied research includes work on heterogeneous data for (rare) genetic diseases:
  • to understand the molecular mechanisms that lead to abnormal phenotypes and diseases.
  • to predict candidates for diagnosis, therapy and toxicology using biological networks and a systems biology approach (network medicine).
  • MSc in Bioinformatics for Health Sciences Universitat Pompeu Fabra, June 2008
    • Supervisor: Dr. Jordi Mestres
  • PhD in Quantum Chemistry, Universitat Rovira i Virgili, July 2006 (Defense on May 2010)
      • Supervisors: Prof. Dr. Rosa Caballol Lorenzo and Dr. Coen de Graaf
  • BSc in Chemistry, Universitat Rovira i Virgili, July 2001
Professional experience
  1. Researcher, BioSemantics Group, Human Genetics Department, Leids Universitair Medisch Centrum, Leiden, The Netherlands, April 2020 – present
  2. Data Scientist Research Associate, Avillach Lab, Harvard Medical School Department of Biomedical Informatics, Harvard University, Boston, MA (USA), December 2019 – February 2020
  3. Visiting Researcher, BORG, CBRC, King Abdullah University of Science and Technology (KAUST), Thuwal (Saudi Arabia), August 2019 – November 2019
  4. Postdoctoral Research Associate, Su Lab, Department of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA (USA), June 2016 – November 2019
  5. Researcher Fellow, IBI Group, Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), June 2012 – May 2016
  6. Biostatistics Consultant, Open University of Catalonia (UOC), Barcelona, September 2010 – April 2016
  7. Bioinformatics Technician Fellow, IDIBAPS, Barcelona (Spain), September 2010 – January 2012
  8. Bioinformatics Technician Department of Biochemistry and Biotechnology (URV), Tarragona (Spain), July 2009 – June 2010
  9. MSc Researcher Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), September 2007 – September 2008
  10. PhD Researcher Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2002 – September 2006
  11. Teacher Assistant Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2001 – September 2002
Research profiles
email: nuria.q.rosinach [at]