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Biography

Marco's research focus is on making state-of-the-art computer science applicable to enhance biomedical research, particularly for rare human diseases and with knowledge discovery and data linking techniques. He has extended his original biological interest in the role of chromatin in the functioning of the cell to bridging between genotype and phenotype using data linking techniques and data science. After including computer science subjects in his MSc in molecular biology, Marco worked as a multidisciplinary researcher in research groups in life science and computer science. Now, as group leader of the Biosemantics research group of prof. Dr. Barend Mons, LUMC, he leads the research, development and application of knowledge discovery methods for human genetics research. He co-leads the rare disease community of the European life science data infrastructure ELIXIR, FAIR* 'at source' activities in the European Joint Program Rare Diseases, and initiated the Rare Diseases Global Open FAIR implementation network. An important aspect of Marco's work is advocating principles of FAIR and Linked Data to create a powerful substrate and world-wide robust infrastructure for knowledge discovery across heterogeneous data distributed over institutes and countries.

* FAIR principles: data should be findable, accessible, interoperable, reusable for humans and computers.

Activities

Employment (1)

Leiden University Medical Center: Leiden, NL

2009-09-01 to present | Assistant professor & group leader (Human Genetics)
Employment
Source: Self-asserted source
Marco Roos

Education and qualifications (2)

University of Amsterdam: Amsterdam, NL

1996 to 2001 | PhD (Molecular cytology)
Qualification
Source: Self-asserted source
Marco Roos

Universiteit van Amsterdam: Amsterdam, NL

1988 to 1995 | MSc
Education
Source: Self-asserted source
Marco Roos

Funding (4)

European Joint Programme on Rare Diseases

2019-01-01 to 2023-12-31 | Grant
European Commission (Brussels, BE)
GRANT_NUMBER: 825575
Source: Self-asserted source
Marco Roos via DimensionsWizard

ELIXIR-EXCELERATE: Fast-track ELIXIR implementation and drive early user exploitation across the life-sciences.

2015-09-01 to 2019-08-31 | Grant
European Commission (Brussels, BE)
GRANT_NUMBER: 676559
Source: Self-asserted source
Marco Roos via DimensionsWizard

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research

2012-11-01 to 2018-10-31 | Grant
European Commission (Brussels, BE)
GRANT_NUMBER: 305444
Source: Self-asserted source
Marco Roos via DimensionsWizard

Verantwoorde Waardecreatie met Big Data (VWData)

Grant
Netherlands Organisation for Scientific Research (The Hague, NL)
GRANT_NUMBER: 400.17.605
Source: Self-asserted source
Marco Roos via DimensionsWizard

Works (50 of 90)

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MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

Human Mutation
2018 | Journal article
Source: Self-asserted source
Marco Roos

OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases

Studies in health technology and informatics
2018 | Journal article
EID:

2-s2.0-85056282178

Contributors: Schaaf, J.; Kadioglu, D.; Goebel, J.; Behrendt, C.-A.; Roos, M.; van Enckevort, D.; Ückert, F.; Sadiku, F.; Wagner, T.O.F.; Storf, H.
Source: Self-asserted source
Marco Roos via Scopus - Elsevier

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

European Journal of Human Genetics
2018 | Journal article
Source: Self-asserted source
Marco Roos

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

International Journal of Environmental Research and Public Health
2018-09 | Journal article | Author
Contributors: sabina gainotti; Deborah Mascalzoni; Virginie Bros-Facer; Carlo Maria Petrini; GIOVANNA FLORIDIA; Marco Roos; Marco Salvatore; Domenica Taruscio
Source: check_circle
Multidisciplinary Digital Publishing Institute

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

BioMed Research International
2017 | Journal article
Source: Self-asserted source
Marco Roos

Meta-Analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes

American Journal of Physiology - Renal Physiology
2017 | Journal article
Source: Self-asserted source
Marco Roos

Overview of a suite of middle-ware services for implementing FAIR data principles

CEUR Workshop Proceedings
2017 | Conference paper
Source: Self-asserted source
Marco Roos

Comment: The FAIR Guiding Principles for scientific data management and stewardship

Scientific Data
2016 | Journal article
Source: Self-asserted source
Marco Roos

Common disease signatures from gene expression analysis in Huntington's disease human blood and brain

Orphanet Journal of Rare Diseases
2016 | Journal article
Source: Self-asserted source
Marco Roos

Consent Codes: Upholding Standard Data Use Conditions

PLoS Genetics
2016 | Journal article
Source: Self-asserted source
Marco Roos

Registries of domain-relevant semantic reference models help bootstrap interoperability in domains with fragmented data resources

CEUR Workshop Proceedings
2016 | Conference paper
Source: Self-asserted source
Marco Roos

The implicitome: A resource for rationalizing gene-disease associations

PLoS ONE
2016 | Journal article
Source: Self-asserted source
Marco Roos

Finding novel associations across domains using linked data: A case study on genetic variants disrupting transcription start sites

CEUR Workshop Proceedings
2015 | Conference paper
Source: Self-asserted source
Marco Roos

From peer-reviewed to peer-reproduced in scholarly publishing: The complementary roles of data models and workflows in bioinformatics

PLoS ONE
2015 | Journal article
Source: Self-asserted source
Marco Roos

Multidisciplinary collaboration to facilitate hypotheses generation in Huntington's disease

Proceedings - 11th IEEE International Conference on eScience, eScience 2015
2015 | Conference paper
Part of ISBN: 9781467393256
Source: Self-asserted source
Marco Roos

Nanopublications for exposing experimental data in the life-sciences: a Huntington's Disease case study

Journal of Biomedical Semantics
2015 | Journal article
Source: Self-asserted source
Marco Roos

A Nanopublishing Architecture for Biomedical Data

8th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB 2014)
2014 | Book chapter
Part of ISBN: 978-3-319-07580-8
Source: Self-asserted source
Marco Roos

BioSemantics Concept Profile Generation Workflows (myExperiment pack)

2014 | Other
Source: Self-asserted source
Marco Roos

Bring your own data parties and beyond: make your data linkable to speed up rare disease research

Abstracts presented to the EPIRARE International Workshop 24-25 November 2014
2014 | Conference paper
Source: Self-asserted source
Marco Roos

Bring your own data workshops: A mechanism to aid data owners to comply with Linked Data best practices

CEUR Workshop Proceedings
2014 | Conference paper
Source: Self-asserted source
Marco Roos

Bring Your Own Data Workshops: {A} Mechanism to Aid Data Owners to Comply with Linked Data Best Practices

Proceedings of the 7th International Workshop on Semantic Web Applications and Tools for Life Sciences, Berlin, Germany, December 9-11, 2014.
2014 | Conference paper
Source: Self-asserted source
Marco Roos

Genome annotation using nanopublications: An approach to interoperability of genetic data

CEUR Workshop Proceedings
2014 | Conference paper
Source: Self-asserted source
Marco Roos

Linked Data and Ontology Tutorial (for RD-Connect)

2014 | Other
Source: Self-asserted source
Marco Roos

Preserving sequence annotations across reference sequences

Journal of Biomedical Semantics
2014 | Journal article
Source: Self-asserted source
Marco Roos

Preserving sequence annotations across reference sequences

Bio-ontologies Special Interest Group, ISMB Satelite
2014 | Conference paper
Source: Self-asserted source
Marco Roos

Project Reference Sequence Annotation (NCBO BioPortal)

2014 | Other
Source: Self-asserted source
Marco Roos

Recent applications of web semantics in eLifeScience

Journal of Web Semantics
2014 | Journal article
Source: Self-asserted source
Marco Roos

Structuring research methods and data with the research object model: genomics workflows as a case study

Journal of Biomedical Semantics
2014 | Journal article
Source: Self-asserted source
Marco Roos

Explain your data by Concept Profile Analysis Web Services

F1000Research
2014-07 | Journal article
Source: Self-asserted source
Marco Roos
grade
Preferred source (of 2)‎

Explain your data by Concept Profile Analysis Web Services

F1000Research
2014-07 | Journal article
Source: Self-asserted source
Marco Roos

Workflows and services for concept profile generation

F1000Posters
2014-01 | Journal article
Source: Self-asserted source
Marco Roos

Nanopublications for exposing experimental data in the life-sciences: a Huntington's Disease case study

Semantic Web Applications and Tools
2013 | Conference paper
Source: Self-asserted source
Marco Roos

Prioritizing hypotheses for epigenetic mechanisms in Huntington's Disease using an e-Science approach

2013 | Other
Source: Self-asserted source
Marco Roos

Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles.

BMC genomics
2013-12 | Journal article
Source: Self-asserted source
Marco Roos

Structuring research methods and data with the Research Object model: genomics workflows as a case study

2013-11 | Journal article
Source: Self-asserted source
Marco Roos

Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles.

BMC genomics
2013-01 | Journal article
Source: Self-asserted source
Marco Roos

Best practices for workflow design: how to prevent workflow decay

proceedings of the Semantic Web Applications and Tools for the Life Sciences (SWAT4LS 2012)
2012 | Conference paper
Source: Self-asserted source
Marco Roos

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

Human Mutation
2012 | Journal article
Source: Self-asserted source
Marco Roos

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.

Human Mutation
2012 | Journal article
Source: Self-asserted source
Marco Roos

Opening new gateways to workflows for life scientists

Studies in health technology and informatics
2012 | Journal article
Source: Self-asserted source
Marco Roos

Opening new gateways to workflows for life scientists.

Studies in health technology and informatics
2012 | Journal article
Source: Self-asserted source
Marco Roos

RO-manager: A tool for creating and manipulating research objects to support reproducibility and reuse in sciences

CEUR Workshop Proceedings
2012 | Conference paper
Source: Self-asserted source
Marco Roos

Speeding up research with the Semantic Web

Orphanet Journal of Rare Diseases
2012 | Journal article
Source: Self-asserted source
Marco Roos
grade
Preferred source (of 2)‎

Towards computational evaluation of evidence for scientific assertions with nanopublications and cardinal assertions

CEUR Workshop Proceedings
2012 | Conference paper
Source: Self-asserted source
Marco Roos

Towards Computational Evaluation of Evidence for Scientific Assertions with Nanopublications and Cardinal Assertions

Proceedings of the 5th International Workshop on Semantic Web Applications and Tools for Life Sciences
2012 | Conference paper
Source: Self-asserted source
Marco Roos

Why workflows break - Understanding and combating decay in Taverna workflows

2012 IEEE 8th International Conference on E-Science, e-Science 2012
2012 | Conference paper
Part of ISBN: 9781467344678
Source: Self-asserted source
Marco Roos

Workflow forever

Proceedings of the 4th International Workshop on Semantic Web Applications and Tools for the Life Sciences SWAT4LS 11
2012 | Conference paper
Source: Self-asserted source
Marco Roos

Workflow-centric research objects: First class citizens in scholarly discourse

CEUR Workshop Proceedings
2012 | Conference paper
Source: Self-asserted source
Marco Roos

In silico discovery and experimental validation of new protein-protein interactions.

Proteomics
2011 | Journal article
Source: Self-asserted source
Marco Roos
grade
Preferred source (of 2)‎

Towards the Preservation of Scientific Workflows

2011 | Book
Source: Self-asserted source
Marco Roos
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