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.
- 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
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
- 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
- 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
email: nuria.q.rosinach [at] gmail.com