NEWS
- April 2022: Our paper “Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic” published in the Journal of Biomedical Semantics. [DOI]
- March 2022: New release of “GA4GH Phenopackets” paper where we contributed has been accepted for publication in Nature Biotechnology.
- February 2022: Our paper “Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic” accepted for publication in the Journal of Biomedical Semantics.
- January 2022:
- Contribution with two papers as co-author at the 13th SWAT4HCLS January 10-13 2022 Virtual conference in Leiden, and in the hackathon proposing one pitch on “Rare Disease specific FAIR Maturity Indicators“.
- Our workshop on “FAIR Data Analytics” has been accepted for the ELIXIR All Hands Meeting 2022 on June.
- November 2021: Participated in the BioHackathon-Europe 2021 leading the project 36 “Mapping GA4GH Phenopackets and OHDSI OMOP for COVID-19 disease epidemics and analytics” on 8-12 Nov Barcelona.
- September 2021:
- Very honored for the great opportunity to be a panelist for the MyScienceWork webinar about FAIR where I discussed our experience on adopting it in a hospital [Recording]
- With great pleasure I presented our work “Applying the FAIR principles to data in a hospital: an interdisciplinary collaboration” as a lighting talk at Open Science FAIR 2021
- With great pleasure I presented our work “LUMC Clinical Ontology for Biomedical Research” as a flash presentation at ICBO 2021
- With great pleasure I presented our work “Reuse of Design Pattern Measurements for Health Data” as a demonstration at FOIS 2021
- August 2021: Our work “LUMC Clinical Ontology for Biomedical Research” accepted for a poster at ICBO 2021
- July 2021: Our work “Reuse of Design Pattern Measurements for Health Data” accepted for a demonstration at FOIS 2021
- June 2021: Our project “Mapping GA4GH Phenopackets and OHDSI OMOP for COVID-19 disease epidemics and analytics” accepted for BioHackathon-Europe 2021
- May 2021: Our work “The COVID-19 epidemiology and monitoring ontology” accepted for a talk and poster at the ISMB/ECCB Bio-Ontologies 2021
- April 2021: Organizing a GA4GH Phenopackets workshop online free event held on 30 April 15-17h CEST, registration and more details at https://www.ejprarediseases.org/event/ejp-rd-technical-hands-on-workshops-ga4gh-phenopackets/
- March 2021: Our work “Enabling FAIR discovery of Rare Disease digital resources” accepted for a talk at the dHeatlh 2021 conference
- February 2021: Contribution in the ELIXIR Rare Diseases 2022/23 Implementation Study proposal
- January 2021: I attended the SWAT4HCLS hackathon 2021 presenting two pitches: [video][Exploring grlc and Salad to align Web APIs with Linked Data][Adding logical structure to the COVID-19 epidemiology ontology]
Curriculum Vitae: [academic][professional]
Updated 2021/03Research 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.
- 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).
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)
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- Supervisors: Prof. Dr. Rosa Caballol Lorenzo and Dr. Coen de Graaf
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- BSc in Chemistry, Universitat Rovira i Virgili, July 2001
Professional experience
- Researcher, BioSemantics Group, Human Genetics Department, Leids Universitair Medisch Centrum, Leiden, The Netherlands, April 2020 – present
- Data Scientist Research Associate, Avillach Lab, Harvard Medical School Department of Biomedical Informatics, Harvard University, Boston, MA (USA), December 2019 – February 2020
- Visiting Researcher, BORG, CBRC, King Abdullah University of Science and Technology (KAUST), Thuwal (Saudi Arabia), August 2019 – November 2019
- Postdoctoral Research Associate, Su Lab, Department of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA (USA), June 2016 – November 2019
- Researcher Fellow, IBI Group, Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), June 2012 – May 2016
- Biostatistics Consultant, Open University of Catalonia (UOC), Barcelona, September 2010 – April 2016
- Bioinformatics Technician Fellow, IDIBAPS, Barcelona (Spain), September 2010 – January 2012
- Bioinformatics Technician Department of Biochemistry and Biotechnology (URV), Tarragona (Spain), July 2009 – June 2010
- MSc Researcher Research Programme on Biomedical Informatics (GRIB) IMIM-UPF, Barcelona (Spain), September 2007 – September 2008
- PhD Researcher Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2002 – September 2006
- Teacher Assistant Department of Physical and Inorganic Chemistry (URV), Tarragona (Spain), September 2001 – September 2002
Núria Queralt Rosinach 