A Simple Standard for Sharing Ontological Mappings (SSSOM)

Author:

Matentzoglu Nicolas1,Balhoff James P2ORCID,Bello Susan M3ORCID,Bizon Chris2ORCID,Brush Matthew4,Callahan Tiffany J4,Chute Christopher G5ORCID,Duncan William D6ORCID,Evelo Chris T7ORCID,Gabriel Davera5,Graybeal John8,Gray Alasdair9,Gyori Benjamin M10ORCID,Haendel Melissa4ORCID,Harmse Henriette11,Harris Nomi L6ORCID,Harrow Ian12,Hegde Harshad B6,Hoyt Amelia L13ORCID,Hoyt Charles T10,Jiao Dazhi5,Jiménez-Ruiz Ernesto1415,Jupp Simon16,Kim Hyeongsik17,Koehler Sebastian18,Liener Thomas12,Long Qinqin19,Malone James20,McLaughlin James A11,McMurry Julie A4,Moxon Sierra6,Munoz-Torres Monica C4ORCID,Osumi-Sutherland David11,Overton James A21ORCID,Peters Bjoern22,Putman Tim4,Queralt-Rosinach Núria19,Shefchek Kent4,Solbrig Harold5,Thessen Anne4ORCID,Tudorache Tania23,Vasilevsky Nicole4,Wagner Alex H2425ORCID,Mungall Christopher J6ORCID

Affiliation:

1. Semanticly Ltd, London WC2H 9JQ, UK

2. RENCI, University of North Carolina, Chapel Hill, NC 27517, USA

3. The Jackson Laboratory, Bar Harbor, ME 04609, USA

4. University of Colorado Anschutz Medical Campus, Aurora, CO 80217, USA

5. Johns Hopkins University, Baltimore, MD 21210, USA

6. Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA

7. Maastricht University, Maastricht 6211 LK, The Netherlands

8. Stanford University, Stanford, CA 94305, USA

9. Department of Computer Science, Heriot-Watt University, Edinburgh, Currie EH14 4AS, UK

10. Harvard Medical School, Boston, MA 02115, USA

11. European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK

12. Pistoia Alliance Inc, USA

13. Beth Israel Deaconess Medical Center, Boston, MA 02215, USA

14. City University of London, London EC1V 0HB, UK

15. University of Oslo, Oslo 0315, Norway

16. SciBite Limited, Bio Data Innovation Centre, Wellcome Genome Campus, Hinxton, Saffron Walden CB10 1DR, UK

17. Robert Bosch LLC, Sunnyvale, CA 94085, USA

18. Ada Health GmbH, Berlin 10178, Germany

19. Leiden University Medical Center, Leiden 2333 ZA, The Netherlands

20. BenchSci, 25 York St Suite 1100, Toronto, ON M5J 2V5, Canada

21. Knocean Inc., Toronto, ON M6P 2T3, Canada

22. La Jolla Institute for Immunology, 9420 Athena Circle, La Jolla, CA 92037, USA

23. Independent Scholar

24. The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA

25. The Ohio State University College of Medicine, Columbus, OH 43210, USA

Abstract

Abstract Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Or are they associated in some other way? Such relationships between the mapped terms are often not documented, which leads to incorrect assumptions and makes them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Furthermore, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. We have developed the Simple Standard for Sharing Ontological Mappings (SSSOM) which addresses these problems by: (i) Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. (ii) Defining an easy-to-use simple table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data principles. (iii) Implementing open and community-driven collaborative workflows that are designed to evolve the standard continuously to address changing requirements and mapping practices. (iv) Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases in detail and survey some of the existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable and Reusable (FAIR). The SSSOM specification can be found at http://w3id.org/sssom/spec. Database URL: http://w3id.org/sssom/spec

Funder

U.S. Department of Energy

DARPA Young Faculty Award

NIH Office of the Director

Open PHACTS

European Bioinformatics Institute

Chan-Zuckerberg Initiative award for the Human Cell Atlas Data Coordination Platform

National Human Genome Research Institute

European Union’s Horizon 2020 research and innovation programme

Publisher

Oxford University Press (OUP)

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Information Systems

Reference89 articles.

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3. OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies;Jackson;Database,2021

4. Investigating one million XRefs in thirthy ontologies from the OBO world;Laadhar,2020

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