CV

I am working in the biomedical informatics field since the year 2012. My research focuses on the creation of novel methods and tools based on semantic and artificial intelligence (AI) technologies to understand the mechanisms underpinning diseases and therapies, and the interplay genotype-environment-phenotype.

NEWS

  • February 2023: attended the first BioHackathon-MENA at KAUST involved in three projects: leading “MetaboliteNET”, co-leading “Harmonizing COVID-19 Epidemiology Ontologies“, and participating in “Embedding ontologies” projects!
  • January 2023: Absolutely delighted to have three abstracts accepted for SWAT4HCLS 2023!
    • My student Karolis Cremers will present his work on “Structured review on Huntington’s disease iron hypothesis“
    • My student Pablo Perdomo Quinteiro will present our work on “FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseases”
    • I will present our work on “Updating the CEMO ontology for future epidemiological challenges”
  • November 2022: attended the BioHackathon-EU 2022 leading the project on “Infrastructure for synthetic health data“
  • September 2022:
    • Proud of my MSc student Mr Pablo Perdomo Quinteiro who presented our work “Knowledge graphs and Explainable AI for Drug Repurposing on Rare Diseases” as a talk at the Role of Ontologies in Biomedical AI workshop at ICBO 2022
    • With great pleasure I presented our work “Rare disease specific FAIR Maturity Indicators” as a talk at the ECCB 2022
Curriculum Vitae: [academic][professional]
Updated 2022/11

Research interests

Developing semantic resources and applying AI 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 semantics and AI methods on knowledge graphs for predictive interpretable models
    • applying AI 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).

Professional experience

  1. Postdoctoral Senior Researcher, Biosemantics Group, Human Genetics Department, Leiden University Medical Centre (LUMC), 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. Postdoctoral 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

Education

  • 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

Research profiles

Contact

email: n.queralt_rosinach@lumc.nl