What is a pandemic, ontologically?

At some point in time, this COVID-19 pandemic will be over. Each time that thought crossed my mind, there was that little homunculus in my head whispering: but do you know the criteria for when it can be declared ‘over’? I tried to push that idea away by deferring it to a ‘whenever the WHO says it’s over’, but the thought kept nagging. Surely there would be a clear set of criteria lying on the shelf awaiting to be ticked off? Now, with the omicron peak well past us here in South Africa, and with comparatively little harm done in that fourth wave, there’s more talk publicly of perhaps having that end in sight – and thus also needing to know what the decisive factors are for calling it an end.

Then there are the anti-vaxxers. I know a few of them as well. One raged on with the argument that ‘they’ (the baddies in the governments in multiple countries) count the death toll entirely unfairly: “flu deaths count per season in a year, but for covid they keep adding up to the same counter from 2020 to make the death toll look much worse!! Trying to exaggerate the severity!” My response? Duh, well, yes they do count from early 2020, because a pandemic is one event and you count per event! Since the COVID-19 pandemic is a pandemic that is an event, we count from the start until the end – whenever that end is. It hadn’t even crossed my mind that someone wouldn’t count per event but, rather, wanted to chop up an event to pretend it would be smaller than it actually is.

So I did a little digging after all. What is the definition of a pandemic? What are its characteristics? Ontologically, what is that notion of ‘pandemic’, be it according to the analytic philosophers, ontologists, or modellers, or how it may be aligned to some of the foundational ontologies used in ontology engineering? From that, we then should be able to determine when all this COVID-19 has become a ‘is not a pandemic’ (whatever it may be classified into after the pandemic is over).

I could not find any works from the philosophers and theory-focussed ontologists that would have done the work for me already. (If there is and I missed it, please let me know.) Then, to start: what about definitions? There are some, like the recently updated one from dictionary.com where they tried to explain it from a language perspective, and lots of debate and misunderstandings in the debate about defining and describing a pandemic [1]. The WHO has descriptions, but not a clear definition, and pandemic phases. Formulations of definitions elsewhere vary slightly as well, except for the lowest common denominator: it’s a large epidemic.

Ontologically, that is an entirely unsatisfying answer. What is ‘large’? Some, like the CDC of the USA qualified it somewhat: it’s spread over the world or at least multiple regions and continents, and in those areas, it usually affects many people. The Australian Department of Health adds ‘new disease’ to it. Now we’re starting to get somewhere with inclusion of key properties of a pandemic. Kelly [2] adds another criterion to it, albeit focussed on influenza: besides worldwide/very wide area and  affecting a large number of people, “almost simultaneous transmission takes place worldwide” and thus for a part of the world, there is an out-of-season influenza virus transmission.

Image credits: Miroslava Chrienova, taken from this page.

The best resource of all from an ontologists’ perspective, is a very clear, well-written, perspective article written by Morens, Folkers and Fauci – yes, that Fauci from the CDC – in the Journal of Infectious Diseases that, in their lack of wisdom, keeps the article paywalled (it somehow made it onto the webarchive with free access here anyhow). They’re experts and they trawled the literature to, if not define a pandemic, then at least describe it through trying to list the characteristics and the merits, or demerits, thereof. They are, in short, and with my annotation on what sort of attribute (/feature/characteristic, as loosely used term for now) it is:

  1. Wide geographic extension; as aforementioned. That’s a scale or ‘fuzzy’ (imprecise in some way) feature, i.e., without a crisp cut-off point when ‘wide’ starts or ends.
  2. Disease movement, i.e., there’s some transmission going on from place to place and that can be traced. That’s a yes/no characteristic.
  3. High attack rates and explosiveness, i.e., lots of people affected in a short timespan. There’s no clear cut-off point on how fast the disease has to spread for counting as ‘fast spreading’, so a scale or fuzzy feature.
  4. Minimal population immunity; while immunity is a “relative concept” (i.e., you have it to a degree), it’s a clear notion for a population when that exists or not; e.g., it certainly wasn’t there when SARS-CoV-2 started spreading. It is agnostic about how that population immunity is obtained. This may sound like a yes/no feature, perhaps, but is fuzzy, because practically we may not know and there’s for sure a grey area thanks to possible cross-immunity (natural or vaccine-induced) and due to the extent of immune-evasion of the infectious agent.
  5. Novelty; the term speaks for itself, and clearly is a yes/no feature as well. It seems to me like ‘novel’ implies ‘minimal population immunity’, but that may not be the case.
  6. Infectiousness; it’s got to be infectious, and so excluding non-infectious things, like obesity and smoking. Clear yes/no.
  7. Contagiousness; this may be from person to person or through some other medium (like water for cholera). Perhaps as an attribute with categorical values; e.g., human-to-human, human-animal intermediary (e.g., fleas, rats), and human-environment (notably: water).
  8. Severity; while the authors note that it’s not typically included, historically, the term ‘pandemic’ has been applied more often for diseases that are severe or with high fatality rates (e.g., HIV/AIDS) than for milder ones. Fuzzy concept for which a scale could be used.

And, at the end of their conclusions, “In summary, simply defining a pandemic as a large epidemic may make ultimate sense in terms of comprehensibility and consistency. We also suggest that use of the term is best reserved for infectious diseases that share many of the same epidemiologic features discussed above” (p1020), largely for simplifying it to the public, but where scientists and public health officials would maintain their more precise consensus understanding of the complex scientific concept.

Those imprecise/fuzzy properties and lack of clarity of cut-off points bug the epidemiologists, because they lead to different outcomes of their prediction models. From my ontologist viewpoint, however, we’re getting somewhere with these properties: SARS-CoV-2, at least early in 2020 when the pandemic was declared, ticked all those eight boxes and so any reasoner would classify the disease it causes, COVID-19, as a pandemic. Now, in early 2022 with/after the omicron variant of concern? Of those eight properties, numbers 4 and 8 much less so, and number 5 is the million-dollar-question two years into the pandemic. Either way, considering all those properties of a pandemic that have passed the revue here so far, calling an end to the pandemic is not as trivial is it initially may have sounded like. WHO’s “post pandemic period” phase refers to “levels seen for seasonal influenza in most countries with adequate surveillance”. That is a clear specification operationally.

Ontologically, if we were to take these eight properties at face value, the next question then is: are all eight of them combined the necessary and sufficient conditions, or are some of them ‘more essential’ for calling it a pandemic, and the other ones would then be optional features? Etymologically, the pan in pandemic means ‘all’, so then as long as it rages across the world, it would remain a pandemic?

Now that things get ontologically more interesting, the ontological status. Informally, an epidemic is an occurrence (read: instance/individual entity) of an infectious disease at a particular time (read: an unspecified duration of time, not an instant) and that affects some community (be that a community of humans, chicken, or whatever other organisms that live in a community), and pandemic, as a minimum, extends the region that it affects and amount of organisms infected, and then some of those other features listed above.

A pandemic is in the same subject domain as an infectious disease, and so we can consult the OBO Foundry and see what they did, or first start with just the main BFO categories for a general sense of what it would align to. With our BFO Classifier, I get as far as process:

As to the last (optional) question: could one argue that a pandemic is a collection of disjoint part-processes? Not if the part-processes all have to be instances of different types of processes. The other loose end is that BFO’s processes need not have an end, but pandemics do. For now, what’s the most relevant is that the pandemic is distinctly in the occurrent branch of BFO, and occurrents have temporal parts.

Digging further into the OBO Foundry, they indeed did quite some work on infectious diseases and COVID-19 already [4], and following the trail from their Figure 1 (see below): disposition is a realizable entity is a specifically dependent continuant is a continuant; infectious disease course is a disease course is a process is an occurrent; and “realizable entity comes to be realized in the course of the process”.

Source: Figure 1 of [4].

In that approach, COVID-19 is the infectious disease being realised in the pandemic we’re in at the moment, with multiple infectious disease courses in humans and a few other animals. But where does that leave us with pandemic? Inspecting the Infectious Disease Ontology (IDO) since the article does not give a definition, infectious disease epidemic and infectious disease pandemic are siblings of infectious disease course, where disease course is described as “Totality of all processes through which a given disease instance is realized.” (presumably the totality of all processes in one human where there’s an instance of, say, COVID-19). Infectious disease pandemic is an atomic class with no properties or formal definitions, but there’s an annotation with a definition. Nice try; won’t work.

What’s the problem? There are three. The first, and key, problem is that pandemic is stated to be a collection of epidemics, but i) collections of individual things (collectives, aggregates) are categorically different kind of entities than individual things, and ii) epidemic and pandemic are not categorically different things. Not just that, there’s a fiat boundary (along a continuum, really) between an epidemic evolving into becoming a pandemic and then subsiding into separate epidemics. A comparatively minor, or at least secondary, issue is how to determine the boundary of one epidemic from another to be able to construct a collective, since, more fundamentally: what are the respective identities of those co-occurring epidemics? One can’t get collections of things we can’t quite identify. For instance, is it one epidemic in two places that it jumped to, or do they count as two then, and what when two separate ones touch and presumably merge to become one large one? The third issue, and also minor for the current scope, is the definition for epidemic in the ontology’s annotation field, talking of “statistically significant increase in the infectious disease incidence” as determiner, but actually it’s based on a threshold.

Let’s try DOLCE as foundational ontology and see what we get there. With the DOLCE Decision Diagram [5], pandemic ends up as: Is [pandemic] something that is happening or occurring? Yes (perdurant – alike BFO’s occurrent). Are you able to be present or participate in [a pandemic]? Yes (event). Is [a pandemic] atomic, i.e., has no subdivisions of it and has a definite end point? No (accomplishment). Not the greatest word choice to say that a pandemic is an accomplishment – almost right up there with the DOLCE developers’ example that death is an achievement – but it sure is an accomplishment from the perspective of the infectious agent. The nice thing of dolce:accomplishment over  bfo:process is that it entails there’s a limited duration to it (DOLCE also has process that also can go on and on and on).

The last question in both decision diagrams made me pause. The instances of COVID-19 going around could possibly be going around after the pandemic is over, uninterrupted in the sense that there is no time interval where no-one is infected with SARS-CoV-2, or it could be interrupted with later flare-ups if it’s still SARS-CoV-2 and not substantially different, but the latter is a grey area (is it a flare-up or a COVID-2xxx?). The latter is not our problem now. The former would not be in contradiction with pandemic as accomplishment, because COVID-19-the-pandemic and COVID-19-the-disease are two different things. (How those two relate can be a separate story.)

To recap, we have pandemic as an occurrent/perdurant entity unfolding in time and, depending on one’s foundational ontology, something along the line of accomplishment. For an epidemic to be classified as a pandemic, there are a varying number of features that aren’t all crisp and for which the fuzzy boundaries haven’t been set.

To sketch this diagrammatically (hence, informally), it would look something like this:

where the clocks and the DEX and DEV arrows are borrowed from the TREND temporal conceptual data modelling language [6]: Epidemic and Pandemic are temporal entities, DEX (+dashed arrow) verbalised is “An epidemic may also become a pandemic” and DEV (+solid arrow): “Each pandemic must evolve to epidemic ceasing to be a pandemic” (hiding the logic at the back-end).

It isn’t a full answer as to what a pandemic is ontologically – hence, the title of the blog post still has that question mark – but we can already clear up the two issues from the introduction of this post, as follows.

Consequences

We already saw that with any definition, description, and list of properties proposed, there is no unambiguous and certain definite endpoint to a pandemic that can be deterministically computed. Well, other than the extremes of either 100% population immunity or the affected species is extinct such that there is no single instance of a disease course (in casu, of COVID-19) either way. Several measured values of the scales for the fuzzy variables will go down and immunity increase (further) as the pandemic unfolds, and then the pandemic phase is over eventually. Since there are no thresholds defined, there likely will be people who are forever disagreeing on when it can be called over. That is inherent in the current state of defining what a pandemic is. Perhaps it now also makes you appreciate the somewhat weak operational statement of the WHO post-pandemic period phase – specifying anything better is fraught with difficulties to date and unlikely to ever make everybody happy.

There’s that flawed argument of the anti-vaxxer to deal with still. Flu epidemics last about 10 weeks, on average [7]. They happen in the winter and in the  northern hemisphere that may cross a New Year (although I can’t remember that has ever happened in all the years I’ve lived in Europe). And yet, they also count per epidemic and not per calendar year. School years run from September to July, which provides a different sort of year, and the flu epidemics there are typically reported as ‘flu season 2014/2015’, indicating just that. Because those epidemics are short-lived, you typical get only one of those in a year, and in-season only.

Contrast this with COVID-19: it’s been going round and round and round since late December 2019, with waves and lulls for all countries, regions, and continents, but never did it stop for a season in whole regions or continents. Most countries come close to a stop during a lull at some point between the waves; for South Africa, according to worldometers, the lowest 7-day moving average since the first wave in 2020 was 265 recorded infections per day, on 7 November 2021. Any out-of-season waves? Oh yes – beta came along in summer last year and it was awful; at least for this year’s summer we got a relatively harmless omicron. And it’s not just South Africa that has been having out-of-season spikes. Point is, the COVID-19 pandemic ‘accomplishment’ wasn’t over within the year – neither a calendar year nor a northern hemisphere school year – and so we keep counting with the same counter for as long as the event takes until the pandemic as event is over. There’s no nefarious plot of evil controlling scaremongering governments, just a ‘demic that takes a while longer than we’ve been used to until 2019.

In closing, it is, perhaps, not the last word on the ontological status of pandemic, but I hope the walkthrough provided a little bit of clarity in the meantime already.

References

[1] Doshi, P. The elusive definition of pandemic influenza. Bulletin of the World Health Organization,  2011, 89:532–538

[2] Kelly, H. The classical definition of a pandemic is not elusive. Bulletin of the World Health Organization, 2011, 89 (‎7)‎, 540 – 541.

[3] Morens, DM, Folkers, GK, Fauci, AS. What Is a Pandemic? The Journal of Infectious Diseases, 2009, 200(7): 1018-1021.

[4] Babcock, S., Beverley, J., Cowell, L.G. et al. The Infectious Disease Ontology in the age of COVID-19. Journal of Biomedical Semantics, 2021, 12, 13.

[5] Keet, C.M., Khan, M.T., Ghidini, C. Ontology Authoring with FORZA. 22nd International Conference on Information and Knowledge Management (CIKM’13). ACM proceedings, pp569-578. 2013.

[6] Keet, C.M., Berman, S. Determining the preferred representation of temporal constraints in conceptual models. 36th International Conference on Conceptual Modeling (ER’17). Springer LNCS 10650, 437-450. 6-9 Nov 2017, Valencia, Spain.

[7] Fleming DM, Zambon M, Bartelds AI, de Jong JC. The duration and magnitude of influenza epidemics: a study of surveillance data from sentinel general practices in England, Wales and the Netherlands. European Journal of Epidemiology, 1999, 15(5):467-73.

Conference report: SWAT4HCLS 2022

The things one can do when on sabbatical! For this week, it’s mainly attending the 13th Semantic Web Applications and tools for Health Care and Life Science (SWAT4HCLS) conference and even having some time to write a conference report again. (The last lost tagged with conference report was FOIS2018, at the end of my previous sabbatical.) The conference consisted of a tutorial day, two conference days with several keynotes and invited talks, paper presentations and poster sessions, and the last day a ‘hackathon’/unconference. This clearly has grown over the years from the early days of the event series (one day, workshop, life science).

A photo of the city where it was supposed to take place: Leiden (NL) (Source: here)

It’s been a while since I looked in more detail into the life sciences and healthcare semantics-driven software ecosystems. The problems are largely the same, or more complex, with more technologies and standards to choose from that promise that this time it will be solved once and for all but where practitioners know it isn’t that easy. And lots of tooling for SARS-CoV-2 and COVID-19, of course. I’ll summarise and comment on a few presentations in the remainder of this post.

Keynotes

The first keynote speaker was Karin Verspoor from RMIT in Melbourne, Australia, who focussed her talk on their COVID-SEE tool [1], a Scientific Evidence Explorer for COVID-19 information that relies on advanced NLP and some semantics to help finding information, notably taking open questions where the sentence is analysed by PICO (population, intervention, comparator, outcome) or part thereof, and using UMLS and MetaMap to help find more connections. In contrast to a well-known domain with well-known terminology to formulate very specific queries over academic literature, that was (and still is) not so for COVID-19. Their “NLP+” approach helped to get better search results.

The second keynote was by Martina Summer-Kutmon from Maastricht University, the Netherlands, who focussed on metabolic pathways and computation and is involved in WikiPathways. With pretty pictures, like the COVID-19 Disease map that culminated from a lot of effort by many research communities with lots of online data resources [2]; see also the WikiPathways one for covid, where the work had commenced in February 2020 already. She also came to the idea that there’s a lot of semantics embedded in the varied pathway diagrams. They collected 64643 diagrams from the literature of the past 25 years, analysed them with ML, OCR, and manual curation, and managed to find gaps between information in those diagrams and the databases [3]. It reminded me of my own observations and work on that with DiDOn, on how to get information from such diagrams into an ontology automatically [4]. There’s clearly still lots more work to do, but substantive advances surely have been made over the past 10 years since I looked into it.

Then there were Mirjam van Reisen from Leiden UMC, the Netherlands, and Francisca Oladipo from the Federal University of Lokoja, Nigeria, who presented the VODAN-Africa project that tries to get Africa to buy into FAIR data, especially for COVID-19 health monitoring within this particular project, but also more generally to try to get Africans to share data fairly. Their software architecture with tooling is open source. Apart from, perhaps, South Africa, the disease burden picture for, and due to, COVID-19, is not at all clear in Africa, but ideally would be. Let me illustrate this: the world-wide trackers say there are some 3.5mln infections and 90000+ COVID-19 deaths in South Africa to date, and from far away, you might take this at face value. But we know from SA’s data at the SAMRC that deaths are about three times as much; that only about 10% of the COVID-19-positives are detected by the diagnostics tests—the rest doesn’t get tested [asymptomatic, the hassle, cost, etc.]; and that about 70-80% of the population already had it at least once (that amounts to about 45mln infected, not the 3.5mln recorded), among other things that have been pieced together from multiple credible sources. There are lots of issues with ‘sharing’ data for free with The North, but then not getting the know-how with algorithms and outcomes etc back (a key search term for that debate has become digital colonialism), so there’s some increased hesitancy. The VODAN project tries to contribute to addressing the underlying issues, starting with FAIR and the GDPR as basis.

The last keynote at the end of the conference was by Amit Shet, with the University of South Carolina, USA, whose talk focussed on how to get to augmented personalised health care systems, with as one of the cases being asthma. Big Data augmented with Smart Data, mainly, combining multiple techniques. Ontologies, knowledge graphs, sensor data, clinical data, machine learning, Bayesian networks, chatbots and so on—you name it, somewhere it’s used in the systems.

Papers

Reporting on the papers isn’t as easy and reliable as it used to be. Once upon a time, the papers were available online beforehand, so I could come prepared. Now it was a case of ‘rock up and listen’ and there’s no access to the papers yet to look up more details to check my notes and pad them. I’m assuming the papers will be online accessible soon (CEUR-WS again presumably). So, aside from our own paper, described further below, all of the following is based on notes, presentation screenshots, and any Q&A on Discord.

Ruduan Plug elaborated on the FAIR & GDPR and querying over integrated data within that above-mentioned VODAN-Africa project [5]. He also noted that South Africa’s PoPIA is stricter than the GDPR. I’m suspecting that is due to the cross-border restrictions on the flow of data that the GDPR won’t have. (PoPIA is based on the GDPR principles, btw).

Deepak Sharma talked about FHIR with RDF and JSON-LD and ShEx and validation, which also related to the tutorial from the preceding day. The threesome Mercedes Arguello-Casteleiro, Chloe Henson, and Nava Maroto presented a comparison of MetaMap vs BERT in the context of covid [6], which I have to leave here with a cliff-hanger, because I didn’t manage to make a note of which one won because I had to go to a meeting that we were already starting later because of my conference attendance. My bet would be on the semantics (those deep learning models probably need more reliable data than there is available to date).

Besides papers related to scientific research into all things covid, another recurring topic was FAIR data—whether it’s findable, accessible, interoperable, and reusable. Fuqi Xu  and collaborators assessed 11 features for FAIR vocabularies in practice, and how to use them properly. Some noteworthy observations were that comparing a FAIR level makes more sense before-and-after changing a single resource compared to pitting different vocabularies against each other, “FAIR enough” can be enough (cf. demanding 100% compliance) [7], and a FAIR vocabulary does not imply that it is also a good quality vocabulary. Arriving at the topic of quality, César Bernabé presented an analysis on the use of foundational ontologies in bioinformatics by means of a systematic literature mapping. It showed that they’re used in a range of activities of ontology engineering, there’s not enough empirical analysis of the pros and cons of using one, and, for the numbers game: 33 of the ontologies described in the selected literature used BFO, 16 DOLCE, 7 GFO, and 1 SUMO [8]. What to do next with these insights remains to be seen.

Last, but not least—to try to keep the blog post at a sort of just about readable length—our paper, among the 15 that were accepted. Frances Gillis-Webber, a PhD student I supervise, did most of the work surveying OWL Ontologies in BioPortal on whether, and if so how, they take into account the notion of multilingualism in some way. TL;DR: they barely do [9]. Even when they do, it’s just with labels rather than any of the language models, be they the ontolex-lemon from the W3C community group or another, and if so, mainly French and German.

Source: [9]

Does it matter? It depends on what your aims are. We use mainly the motivation of ontology verbalisation and electronic health records with SNOMED CT and patient discharge note generation, which ideally also would happen for ‘non-English’. Another use case scenario, indicated by one of the participants, Marco Roos, was that the bio-ontologies—not just health care ones—could use it as well, especially in the case of rare diseases, where the patients are more involved and up-to-date with the science, and thus where science communication plays a larger role. One could argue the same way for the science about SARS-CoV-2 and COVID-19, and thus that also the related bio-ontologies can do with coordinated multilingualism so that it may assist in better communication with the public. There are lots of opportunities for follow-up work here as well.

Other

There were also posters where we could hang out in gathertown, and more data and ontologies for a range of topics, such as protein sequences, patient data, pharmacovigilance, food and agriculture, bioschemas, and more covid stuff (like Wikidata on COVID-19, to name yet one more such resource). Put differently: the science can’t do without the semantic-driven tools, from sharing data, to searching data, to integrating data, and analysis to develop the theory figuring out all its workings.

The conference was supposed to be mainly in person, but then on 18 Dec, the Dutch government threw a curveball and imposed a relatively hard lockdown prohibiting all in-person events effective until, would you believe, 14 Jan—one day after the end of the event. This caused extra work with last-minute changes to the local organisation, but in the end it all worked out online. Hereby thanks to the organising committee to make it work under the difficult circumstances!

References

[1] Verspoor K. et al. Brief Description of COVID-SEE: The Scientific Evidence Explorer for COVID-19 Related Research. In: Hiemstra D., Moens MF., Mothe J., Perego R., Potthast M., Sebastiani F. (eds). Advances in Information Retrieval. ECIR 2021. Springer LNCS, vol 12657, 559-564.

[2] Ostaszewski M. et al. COVID19 Disease Map, a computational knowledge repository of virus–host interaction mechanisms. Molecular Systems Biology, 2021, 17:e10387.

[3] Hanspers, K., Riutta, A., Summer-Kutmon, M. et al. Pathway information extracted from 25 years of pathway figures. Genome Biology, 2020, 21,273.

[4] Keet, C.M. Transforming semi-structured life science diagrams into meaningful domain ontologies with DiDOn. Journal of Biomedical Informatics, 2012, 45(3): 482-494. DOI: dx.doi.org/10.1016/j.jbi.2012.01.004.

[5] Ruduan Plug, Yan Liang, Mariam Basajja, Aliya Aktau, Putu Jati, Samson Amare, Getu Taye, Mouhamad Mpezamihigo, Francisca Oladipo and Mirjam van Reisen: FAIR and GDPR Compliant Population Health Data Generation, Processing and Analytics. SWAT4HCLS 2022. online/Leiden, the Netherlands, 10-13 January 2022.

[6] Mercedes Arguello-Casteleiro, Chloe Henson, Nava Maroto, Saihong Li, Julio Des-Diz, Maria Jesus Fernandez-Prieto, Simon Peters, Timothy Furmston, Carlos Sevillano-Torrado, Diego Maseda-Fernandez, Manoj Kulshrestha, John Keane, Robert Stevens and Chris Wroe, MetaMap versus BERT models with explainable active learning: ontology-based experiments with prior knowledge for COVID-19. SWAT4HCLS 2022. online/Leiden, the Netherlands, 10-13 January 2022.

[7] Fuqi Xu, Nick Juty, Carole Goble, Simon Jupp, Helen Parkinson and Mélanie Courtot, Features of a FAIR vocabulary. SWAT4HCLS 2022. online/Leiden, the Netherlands, 10-13 January 2022.

[8] César Bernabé, Núria Queralt-Rosinach, Vitor Souza, Luiz Santos, Annika Jacobsen, Barend Mons and Marco Roos, The use of Foundational Ontologies in Bioinformatics. SWAT4HCLS 2022. online/Leiden, the Netherlands, 10-13 January 2022.

[9] Frances Gillis-Webber and C. Maria Keet, A Survey of Multilingual OWL Ontologies in BioPortal. SWAT4HCLS 2022. online/Leiden, the Netherlands, 10-13 January 2022.

BFO decision diagram and alignment tool

How to align your domain ontology to a foundational ontology? It’s a well-known question, and one that I’ve looked into before as well. In some of that earlier work, we used DOLCE to align one’s ontology to. We devised the DOLCE decision diagram as part of the FORZA method to assist with the alignment process and implemented that in the MoKI ontology development tool [1]. MoKI is no more, but the theory and the algorithm’s design approach still stand. Instead of re-implementing it as a Protégé plugin and have it go defunct in a few years again (due to incompatible version upgrades, say), it sounded like more fun to design one for BFO and make a stand-alone tool out of it. And that design and the evaluation thereof is precisely what two of my ontology engineering course students—Chiadika Emeruem and Steve Wang—did for their mini-project of the course. That was then finalised and implemented in a tool for general use as part of the DOT4D project extension for my (award-winning) OE textbook afterward.

More precisely, as first part, there’s a diagram specifically for BFO – well, for one of its 2.0-ish versions in existence at least. Deciding on which version to use and what would be good questions was not as trivial as it may sound. While the questions seem to work (as evaluated with several ontologies), it might still be of use to set up an experiment to assess usability from a modeller’s viewpoint.

BFO ‘decision diagram’ to assist trying to align one’s class of a domain or core ontology to BFO (click to enlarge, or navigate to the user guide at https://bfo-classifier.github.io/)

Be this as it may, this decision diagram was incorporated into the tool that wraps around it with a nice interface with user guidance and feedback, and it has the option to load an ontology and save the alignment into the ontology (along with BFO). The decision tree itself is stored as a separate XML file so that it easily can be replaced with any update thereto, be it to reflect changes in question formulation or to adjust it to some later version of BFO. The stand-alone tool is a jar file that can be downloaded from the GitHub repo, and the repo also has the source code that may be used/adapted (i.e., has an open source licence). There’s also a user guide with explanations and screenshots. Here’s another screenshot of the tool in action:

Example of the BFO classifier in use, trying to align CODO’s ‘Disease’ to BFO, the trail of questions answered to get to ‘Disposition’, and the subsumption axiom that can be added to the ontology.

If you have any questions, please feel free to contact either of us.

References

[1] Keet, C.M., Khan, M.T., Ghidini, C. Ontology Authoring with FORZA. 22nd ACM International Conference on Information and Knowledge Management (CIKM’13). ACM proceedings, pp569-578. Oct. 27 – Nov. 1, 2013, San Francisco, USA.

Progress on generating educational questions from ontologies

With increasing student numbers, but not as much more funding for schools and universities, and the desire to automate certain tasks anyhow, there have been multiple efforts to generate and mark educational exercises automatically. There are a number of efforts for the relatively easy tasks, such as for learning a language, which range from the entry level with simple vocabulary exercises to advanced ones of automatically marking essays. I’ve dabbled in that area as well, mainly with 3rd-year capstone projects and 4th-year honours project student projects [1]. Then there’s one notch up with fact recall and concept meaning recall questions, and further steps up, such as generating multiple-choice questions (MCQs) with not just obviously wrong distractors but good distractors to make the question harder. There’s quite a bit of work done on generating those MCQs in theory and in tooling, notably [2,3,4,5]. As a recent review [6] also notes, however, there are still quite a few gaps. Among others, about generalisability of theory and systems – can you plug in any structured data or knowledge source to question templates – and the type of questions. Most of the research on ‘not-so-hard to generate and mark’ questions has been done for MCQs, but there are multiple of other types of questions that also should be doable to generate automatically, such as true/false, yes/no, and enumerations. For instance, with an axiom such as impala \sqsubseteq \exists livesOn.land in a ontology or knowledge graph, a suitable question generation system may then generate “Does an impala live on land?” or “True or false: An impala lives on land.”, among other options.

We set out to make a start with tackling those sort of questions, for the type-level information from an ontology (cf. facts in the ABox or knowledge graph). The only work done there, when we started with it, was for the slick and fancy Inquire Biology [5], but which did not have their tech available for inspection and use, so we had to start from scratch. In particular, we wanted to find a way to be able to plug in any ontology into a system and generate those non-MCQ other types of educations questions (10 in total), where the questions generated are at least grammatically good and for which the answers also can be generated automatically, so that we get to automated marking as well.

Initial explorations started in 2019 with an honours project to develop some basics and a baseline, which was then expanded upon. Meanwhile, we have some more designed, developed, and evaluated, which was written up in the paper “Generating Answerable Questions from Ontologies for Educational Exercises” [7] that has been accepted for publication and presentation at the 15th international conference on metadata and semantics research (MTSR’21) that will be held online next week.

In short:

  • Different types of questions and the answer they have to provide put different prerequisites on the content of the ontology with certain types of axioms. We specified those for 10 types of educational questions.
  • Three strategies of question generation were devised, being ‘simple’ from the vocabulary and axioms and plug it into a template, guided by some more semantics in the ontology (a foundational ontology), and one that didn’t really care about either but rather took a natural language approach. Variants were added to cater for differences in naming and other variations, amounting to 75 question templates in total.
  • The human evaluation with questions generated from three ontologies showed that while the semantics-based one was slightly better than the baseline, the NLP-based one gave the best results on syntactic and semantic correctness of the sentences (according to the human evaluators).
  • It was tested with several ontologies in different domains, and the generalisability looks promising.
Graphical Abstract (made by Toky Raboanary)

To be honest to those getting their hopes up: there are some issues that cause it never to make it to the ‘100% fabulous!’ if one still wants to designs a system that should be able to take any ontology as input. A main culprit is naming of elements in the ontology, which varies widely across ontologies. There are several guidelines for how to name entities, such as using camel case or underscores, and those things easily can be coded into an algorithm, indeed, but developers don’t stick to them consistently or there’s an ontology import that uses another naming convention so that there likely will be a glitch in the generated sentences here or there. Or they name things within the context of the hierarchy where they put the class, but in the question it is out of that context and then looks weird or is even meaningless. I moaned about this before; e.g., ‘American’ as the name of the class that should have been named ‘American Pizza’ in the Pizza ontology. Or the word used for the name of the class can have different POS tags such that it makes the generated sentence hard to read; e.g., ‘stuff’ as a noun or a verb.

Be this as it may, overall, promising results were obtained and are being extended (more to follow). Some details can be found in the (CRC of the) paper and the algorithms and data are available from the GitHub repo. The first author of the paper, Toky Raboanary, recently made a short presentation video about the paper for the yearly Open Evening/Showcase, which was held virtually and that page is still online available.

References

[1] Gilbert, N., Keet, C.M. Automating question generation and marking of language learning exercises for isiZulu. 6th International Workshop on Controlled Natural language (CNL’18). Davis, B., Keet, C.M., Wyner, A. (Eds.). IOS Press, FAIA vol. 304, 31-40. Co. Kildare, Ireland, 27-28 August 2018.

[2] Alsubait, T., Parsia, B., Sattler, U. Ontology-based multiple choice question generation. KI – Kuenstliche Intelligenz, 2016, 30(2), 183-188.

[3] Rodriguez Rocha, O., Faron Zucker, C. Automatic generation of quizzes from dbpedia according to educational standards. In: The Third Educational Knowledge Management Workshop. pp. 1035-1041 (2018), Lyon, France. April 23 – 27, 2018.

[4] Vega-Gorgojo, G. Clover Quiz: A trivia game powered by DBpedia. Semantic Web Journal, 2019, 10(4), 779-793.

[5] Chaudhri, V., Cheng, B., Overholtzer, A., Roschelle, J., Spaulding, A., Clark, P., Greaves, M., Gunning, D. Inquire biology: A textbook that answers questions. AI Magazine, 2013, 34(3), 55-72.

[6] Kurdi, G., Leo, J., Parsia, B., Sattler, U., Al-Emari, S. A systematic review of automatic question generation for educational purposes. Int. J. Artif. Intell. Edu, 2020, 30(1), 121-204.

[7] Raboanary, T., Wang, S., Keet, C.M. Generating Answerable Questions from Ontologies for Educational Exercises. 15th Metadata and Semantics Research Conference (MTSR’21). 29 Nov – 3 Dec, Madrid, Spain / online. Springer CCIS (in print).

Bias in ontologies?

Bias in models in the area of Machine Learning and Deep Learning are well known. They feature in the news regularly with catchy headlines and there are longer, more in-depth, reports as well, such as the Excavating AI by Crawford and Paglen and the book Weapons of Math Destruction by O’Neil (with many positive reviews). What about other types of ‘models’, like those that are not built in a data-driven bottom-up way from datasets that happen to lie around for the taking, but that are built by humans? Within Artificial Intelligence still, there are, notably, ontologies. I searched for papers about bias in ontologies, but could find only one vision paper with an anecdote for knowledge graphs [1], one attempt toward a framework but looking at FOAF only [2], which is stretching it a little for what passes as an ontology, and then stretching it even further, there’s an old one of mine on bias in relation to conceptual data models for databases [3].

We simply don’t have bias in ontologies? That sounds a bit optimistic since it’s pervasive elsewhere, and at least worthy of examination whether there is such notion as bias in ontologies and if so, what the sources of that may be. And, if one wants to dig deeper, since Ontology: what is bias anyhow? The popular media is much more liberal in the use of the term ‘bias’ than scientific literature and I’m not going to answer that last question here now. What I did do, is try to identify sources of bias in the context of ontologies and I took a relevant selection of Dimara et al’s list of 154 biases [4] (just like only a subset is relevant to their scope) to see whether they would apply to a set of existing ontologies in roughly the same domain.

The outcome of that exploratory analysis [5], in short, is: yes, there is such notion as bias in ontologies as well. First, I’ve identified 8 types of sources, described them, and illustrated them with hand-picked examples from extant ontologies. Second, I examined the three COVID-19 ontologies (CIDO, CODO, COVoc) on possible bias, and they exhibited different subsets indeed.

The sources can be philosophical, by purpose (commonly known as encoding bias), and ‘subject domain’ source, such as scientific theory, granularity, linguistic, social-cultural, political or religious, and economic motivations, and they may be explicit choices or implicit.

Table 1. Summary of typical possible biases in ontologies grouped by source, with an indication whether such biases would be explicit choices or whether they may creep in unintentionally and lead to implicit bias. (Source: [5])

An example of an economic motivation is to (try to) categorise some disorder as a type of disease: there latter gets more resources for medicines, research, treatments and is more costly for insurers who’s rather keep it out of the terminology altogether. Or modifying the properties of a disease or disorder in the classification in the medical ontology so that more people will be categorised as having the disorder even when they don’t. It has happened (see paper for details). Terrorism ontologies can provide ample material for political views to creep in.

Besides the hand-picked examples, I did assess the three COVID-19 ontologies in more detail. Not because I wanted to pick on them—I actually think it’s laudable they tried in trying times—but because they were developed in the same timeframe by three different groups in relative isolation from each other. I looked at both the sources, which can be argued to be present and identified some from a selection of Dimara et al’s list, such as the “mere exposure/familiarity” bias and “false consensus” bias (see table below). How they are present, is also described in that same paper, entitled “An exploration into cognitive bias in ontologies”, which has recently been accepted at the workshop on Cognition And OntologieS V (CAOS’21), which is part of the Joint Ontology Workshops Episode VII at the Bolzano Summer of Knowledge.

Table 2. Tentative presence of bias in the three COVID-19 ontologies, by cognitive bias; see paper for details.

Will it matter for automated reasoning when the ontologies are deployed in various information systems? For reasoning over the TBox only, perhaps not so much, or, at least, any inconsistencies that it would have caused should have been detected and discussed during the ontology development stage, rather.

Will it matter for, say, annotating data or literature etc? Some of it yes, for sure. For instance, COVoc has only ‘male’ in the vocabulary, not female (in line with a well-known issue in evidence-based medicine), so when it is used for the “scientific literature triage” they want to, then it’s going to be even harder to retrieve COVID-19 research papers in relation to women specifically. Similarly, when ontologies are used with data, such as for ontology-based data access, bias may have negative effects. Take as example CIDO’s optimism bias, where a ‘COVID-19 experimental drug in a clinical trial’ is a subclass of ‘COVID-19 drug’, and this ontology would be used for OBDA and data integration, as illustrated in the following use case scenario with actual data from the ClinicalTrials database and the FDA approved drugs database:

Figure 1. OBDI scenario with the CIDO, two database, and a query over the system that returns a logically correct but undesirable result due to some optimism that an experimental substance is already a drug.

The data together with the OBDA-enabled reasoner will return ‘hydroxychloroquine’, which is incorrect and the error is due to the biased and erroneous class subsumption declared in the ontology, not the data source itself.

Some peculiarities of content in an ontology may not be due to an underlying bias, but merely a case of ‘ran out of time’ rather than an act of omission due to a bias, for instance. Or it may not be an honest mistake due to bias but a mistake because of some other reason, such as due to having clicked erroneously on a wrong button in the tool’s interface, say, or having misunderstood the modelling language’s features. Disentangling the notion of bias from attendant ontology quality issues is one of the possible avenues of future work. One also can have a go at those lists and mini-taxonomies of cognitive biases and make a better or more comprehensive one, or to try to harmonise the multitude of definitions of what bias is exactly. Methods and supporting software may also assist ontology developers more concretely further down the line. Or: there seems to be enough to do yet.

Lastly, I still hope that I’ll be allowed to present the paper in person at the CAOS workshop, but it’s increasingly looking less and less likely, as our third wave doesn’t seem to want to quiet down and Italy is putting up more hurdles. If not, I’ll try to make a fancy video presentation.

References

[1] K. Janowicz, B. Yan, B. Regalia, R. Zhu, G. Mai, Debiasing knowledge graphs: Why female presidents are not like female popes, in: M. van Erp, M. Atre, V. Lopez, K. Srinivas, C. Fortuna (Eds.), Proceeding of ISWC 2018 Posters & Demonstrations, Industry and Blue Sky Ideas Tracks, volume 2180 of CEUR-WS, 2017.

[2] D. L. Gomes, T. H. Bragato Barros, The bias in ontologies: An analysis of the FOAF ontology, in: M. Lykke, T. Svarre, M. Skov, D. Martínez-Ávila (Eds.), Proceedings of the Sixteenth International ISKO Conference, Ergon-Verlag, 2020, pp. 236 – 244.

[3] Keet, C.M. Dirty wars, databases, and indices. Peace & Conflict Review, 2009, 4(1):75-78.

[4] E. Dimara, S. Franconeri, C. Plaisant, A. Bezerianos, P. Dragicevic, A task-based taxonomy of cognitive biases for information visualization, IEEE Transactions on Visualization and Computer Graphics 26 (2020) 1413–1432.

[5] Keet, C.M. An exploration into cognitive bias in ontologies. Cognition And OntologieS (CAOS’21), part of JOWO’21, part of BoSK’21. 13-16 September 2021, Bolzano, Italy. (in print)

CLaRO v2.0: A larger CNL for competency questions for ontologies

The avid blog reader with a good memory might remember we had developed a controlled natural language (CNL) in 2019 that we called CLaRO, a Competency question Language for specifying Requirements for an Ontology, model, or specification [1], for specifying requirements on the contents of the TBox (type-level) knowledge specifically. The paper won the best student paper award at the MTSR’19 conference.  Then COVID-19 came along.

Notwithstanding, we did take next steps and obtained some advances in the meantime, which resulted in a substantially extended CNL, called CLaRO v2 [2]. The paper describing how it came about has been accepted recently at the 7th Controlled Natural Language Workshop (CNL2020/21), which will be held on 8-9 September in Amsterdam, The Netherlands, in hybrid mode.

So, what is it about, being “new and improved!” compared to the first version? The first version was created in a bottom-up fashion based on a dataset of 234 competency questions [3] in a few domains only. It turned out alright with decent performance on coverage for unseen questions (88% overall) and very significantly outperforming the others, but there were some nagging doubts about the feasibility of bottom-up approaches to template development, which are essentially at the heart of every bottom-up approach: questions about representativeness and quality of the source data. We used more questions as basis to work from than others and had better coverage, but would coverage improve further then still with even more questions? Would it matter for coverage if the CQs were to come from more diverse subject domains? Also, upon manual inspection of the original CQs, it could be seen that some CQs from the dataset were ill-formed, which propagated through to the final set of templates of CLaRO. Would ‘cleaning’ the source data to presumably better quality templates improve coverage?

One of the PhD students I supervise, Mary-Jane Antia, set out to find answer to these questions. CQs were cleaned and vetted by a linguist, the templates recreated and compared and evaluated—this time automatically in a new testing pipeline. New CQs for ontologies were sourced by searching all over the place and finding some 70, to which we added 22 more variants by tweaking wording of existing CQs such that they still would be potentially answerable by an ontology. They were tested on the templates, which resulted in a lower than ideal percentage of coverage and so new templates were created from them, and yet again evaluated. The key results:

  • An increase from 88% for CLaRO v1 to 94.1% for CLaRO v2 coverage.
  • The new CLaRO v2 has 147 main templates and another 59 variants to cater for minor differences (e.g., singular/plural, redundant words), up from 93 and 41 in CLaRO.
  • Increasing the number of domains that the CQs were drawn from had a larger effect on the CQ coverage than cleaning the source data.
Screenshot of the CLaRO CQ editor tool.

All the data, including the new templates, are available on Github and the details are described in the paper [2]. The CLaRO tool that supports the authoring is in the process of being updated so as to incorporate the v2 templates (currently it is working with the v1 templates).

I will try to make it to Amsterdam where CNL’21 will take place, but travel restrictions aren’t cooperating with that plan just yet; else I’ll participate virtually. Mary-Jane will present the paper, and also for her, despite also having funding for the trip, it increasingly looks like a virtual presentation. On the bright side: at least there is a way to participate virtually.

References

[1] Keet, C.M., Mahlaza, Z., Antia, M.-J. CLaRO: a Controlled Language for Authoring Competency Questions. 13th Metadata and Semantics Research Conference (MTSR’19). 28-31 Oct 2019, Rome, Italy. Springer CCIS vol. 1075, 3-15.

[2]  Antia, M.-J., Keet, C.M. Assessing and Enhancing Bottom-up CNL Design for Competency Questions for Ontologies. 7th International Workshop on Controlled Natural language (CNL’21), 8-9 Sept. 2021, Amsterdam, the Netherlands. (in print)

[3] Potoniec, J., Wisniewski, D., Lawrynowicz, A., Keet, C.M. Dataset of Ontology Competency Questions to SPARQL-OWL Queries Translations. Data in Brief, 2020, 29: 105098.

Automatically simplifying an ontology with NOMSA

Ever wanted only to get the gist of the ontology rather than wading manually through thousands of axioms, or to extract only a section of an ontology for reuse? Then the NOMSA tool may provide the solution to your problem.

screenshot of NOMSA in action (deleting classes further than two levels down in the hierarchy in BFO)

There are quite a number of ways to create modules for a range of purposes [1]. We zoomed in on the notion of abstraction: how to remove all sorts of details and create a new ontology module of that. It’s a long-standing topic in computer science that returns every couple of years with another few tries. My first attempts date back to 2005 [2], which references modules & abstractions for conceptual models and logical theories to works published in the mid-1990s and, stretching the scope to granularity, to 1985, even. Those efforts, however, tend to halt at the theory stage or worked for one very specific scenario (e.g., clustering in ER diagrams). In this case, however, my former PhD student and now Senior Research at the CSIR, Zubeida Khan, went further and also devised the algorithms for five types of abstraction, implemented them for OWL ontologies, and evaluated them on various metrics.

The tool itself, NOMSA, was presented very briefly at the EKAW 2018 Posters & Demos session [3] and has supplementary material, such as the definitions and algorithms, a very short screencast and the source code. Five different ways of abstraction to generate ontology modules were implemented: i) removing participation constraints between classes (e.g., the ‘each X R at least one Y’ type of axioms), ii) removing vocabulary (e.g., remove all object properties to yield a bare taxonomy of classes), iii) keeping only a small number of levels in the hierarchy, iv) weightings based on how much some element is used (removing less-connected elements), and v) removing specific language profile features (e.g., qualified cardinality, object property characteristics).

In the meantime, we have added a categorisation of different ways of abstracting conceptual models and ontologies, a larger use case illustrating those five types of abstractions that were chosen for specification and implementation, and an evaluation to see how well the abstraction algorithms work on a set of published ontologies. It was all written up and polished in 2018. Then it took a while in the publication pipeline mixed with pandemic delays, but eventually it has emerged as a book chapter entitled Structuring abstraction to achieve ontology modularisation [4] in the book “Advanced Concepts, methods, and Applications in Semantic Computing” that was edited by Olawande Daramola and Thomas Moser, in January 2021.

Since I bought new video editing software for the ‘physically distanced learning’ that we’re in now at UCT, I decided to play a bit with the software’s features and record a more comprehensive screencast demo video. In the nearly 13 minutes, I illustrate NOMSA with four real ontologies, being the AWO tutorial ontology, BioTop top-domain ontology, BFO top-level ontology, and the Stuff core ontology. Here’s a screengrab from somewhere in the middle of the presentation, where I just automatically removed all 76 object properties from BioTop, with just one click of a button:

screengrab of the demo video

The embedded video (below) might keep it perhaps still readable with really good eyesight; else you can view it here in a separate tab.

The source code is available from Zubeida’s website (and I have a local copy as well). If you have any questions or suggestions, please feel free to contact either of us. Under the fair use clause, we also can share the book chapter that contains the details.

References

[1] Khan, Z.C., Keet, C.M. An empirically-based framework for ontology modularization. Applied Ontology, 2015, 10(3-4):171-195.

[2] Keet, C.M. Using abstractions to facilitate management of large ORM models and ontologies. International Workshop on Object-Role Modeling (ORM’05). Cyprus, 3-4 November 2005. In: OTM Workshops 2005. Halpin, T., Meersman, R. (eds.), LNCS 3762. Berlin: Springer-Verlag, 2005. pp603-612.

[3] Khan, Z.C., Keet, C.M. NOMSA: Automated modularisation for abstraction modules. Proceedings of the EKAW 2018 Posters and Demonstrations Session (EKAW’18). CEUR-WS vol. 2262, pp13-16. 12-16 Nov. 2018, Nancy, France.

[4] Khan, Z.C., Keet, C.M. Structuring abstraction to achieve ontology modularisation. Advanced Concepts, methods, and Applications in Semantic Computing. Daramola O, Moser T (Eds.). IGI Global. 2021, 296p. DOI: 10.4018/978-1-7998-6697-8.ch004

The ontological commitments embedded in a representation language

Just like programming language preferences generate heated debates, this happens every now and then with languages to represent ontologies as well. Passionate dislikes for description logics or limitations of OWL are not unheard of, in favour of, say, Common Logic for more expressiveness and a different notation style, or of OBO because of its graph-based fundamentals, or that abuse of UML Class Diagram syntax  won’t do as approximation of an OWL file. But what is really going on here? Are they practically all just the same anyway and modellers merely stick with, and defend, what they know? If you could design your pet language, what would it look like?

The short answer is: they are not all the same and interchangeable. There are actually ontological commitments baked into the language, even though in most cases this is not explicitly stated as such. The ‘things’ one has in the language indicate what the fundamental building blocks are in the world (also called “epistemological primitives” [1]) and therewith assume some philosophical stance. For instance, a crisp vs vague world (say, plain OWL or a fuzzy variant thereof) or whether parthood is such a special relation that it deserves its own primitive next to class subsumption (alike UML’s aggregation). Or maybe you want one type of class for things indicated with count nouns and another type of element for stuffs (substances generally denoted with mass nouns). This then raises the question as to what the sort of commitments are that are embedded in, or can go into, a language specification and that have an underlying philosophical point of view. This, in turn, raises the question about which philosophical stances actually can have a knock-on effect on the specification or selection of an ontology language.

My collaborator, Pablo Fillottrani, and I tried to answer these questions in the paper entitled An Analysis of Commitments in Ontology Language Design that was published late last year as part of the proceedings of the 11th Conference on Formal Ontology in Information Systems 2020 that was supposed to have been held in September 2020 in Bolzano, Italy. In the paper, we identified and analysed ontological commitments that are, or could have been, embedded in logics, and we showed how they have been taken for well-known languages for representing ontologies and similar artefacts, such as OBO, SKOS, OWL 2DL, DLRifd, and FOL. We organised them in four main categories: what the very fundamental furniture is (e.g., including roles or not, time), acknowledging refinements thereof (e.g., types of relations, types of classes), the logic’s interaction with natural language, and crisp vs various vagueness options. They are discussed over about 1/3 of the paper.

Obviously, engineering considerations can interfere in the design of the logic as well. They concern issues such as how the syntax should look like and whether scalability is an issue, but this is not the focus of the paper.

We did spend some time contextualising the language specification in an overall systematic engineering process of language design, which is summarised in the figure below (the paper focuses on the highlighted step).

(source: [2])

While such a process can be used for the design of a new logic, it also can be used for post hoc reconstructions of past design processes of extant logics and conceptual data modelling languages, and for choosing which one you want to use. At present, the documentation of the vast majority of published languages do not describe much of the ‘softer’ design rationales, though.  

We played with the design process to illustrate how it can work out, availing also of our requirements catalogue for ontology languages and we analysed several popular ontology languages on their commitments, which can be summed up as in the table shown below, also taken from the paper:

(source: [2])

In a roundabout way, it also suggests some explanations as to why some of those transformation algorithms aren’t always working well; e.g., any UML-to-OWL or OBO-to-OWL transformation algorithm is trying to shoe-horn one ontological commitment into another, and that can only be approximated, at best. Things have to be dropped (e.g., roles, due to standard view vs positionalism) or cannot be enforced (e.g., labels, due to natural language layer vs embedding of it in the logic), and that’ll cause some hick-ups here and there. Now you know why, and that won’t ever work well.

Hopefully, all this will feed into a way to help choosing a suitable language for the ontology one may want to develop, or assist with understanding better the language that you may be using, or perhaps gain new ideas for designing a new ontology language.

References

[1] Brachman R, Schmolze J. An overview of the KL-ONE Knowledge Representation System. Cognitive Science. 1985, 9:171–216.

[2] Fillottrani, P.R., Keet, C.M. An Analysis of Commitments in Ontology Language Design. Proc. of FOIS 2020. Brodaric, B. and Neuhaus, F. (Eds.). IOS Press. FAIA vol. 330, 46-60.

An architecture for Knowledge-driven Information and Data access: KnowID

Advanced so-called ‘intelligent’ information systems may use an ontology or runtime-suitable conceptual data modelling techniques in the back end combined with efficient data management. Such a set-up aims to provide a way to better support informed decision-making and data integration, among others. A major challenge to create such systems, is to figure out which components to design and put together to realise a ‘knowledge to data’ pipeline, since each component and process has trade-offs; see e.g., the very recent overview of sub-topics and challenges [1]. A (very) high level categorization of the four principal approaches is shown in the following figure: put the knowledge and data together in the logical theory the AI way (left) or the database way (right), or bridge it by means of mappings or by means of transformations (centre two):

Figure 1. Outline of the four approaches to relate knowledge and data in a system. (Source: adapted from [6])

Among those variants, one can dig into considerations like which logic to design or choose in the AI-based “knowledge with (little) data” (e.g.: which OWL species? common logic? Other?), which type of database (relational, object-relational, or rather an RDF store), which query language to use or design, which reasoning services to support, how expressive it all has to and optimized for what purpose. None is best in all deployment scenarios. The AI-only one with, say, OWL 2 DL, is not scalable; the database-only one either lacks interesting reasoning services or supports few types of constraints.

Among the two in the middle, the “knowledge mapping data” is best known under the term ‘ontology-based data access’ (OBDA) and the Ontop system in particular [2] with its recent extension into ‘virtual knowledge graphs’ and the various use cases [3]. Its distinguishing characteristic of the architecture is the mapping layer to bridge the knowledge to the data. In the “Data transformation knowledge” approach, the idea is to link the knowledge to the data through a series of transformations. No such system is available yet. Considering the requirements for that, it turned out that a good few components are already available and just needed one crucial piece of transformations to convincingly put that together.

We did just that and devised a new knowledge-to-data architecture. We dub this the KnowID architecture (pronounced as ‘know it’), abbreviated from Knowledge-driven Information and Data access. KnowID adds novel transformation rules between suitably formalised EER diagrams as application ontology and Borgida, Toman & Weddel’s Abstract Relational Model with SQLP ([4,5]) to complete the pipeline (together with some recently proposed other components). Overall, it then looks like this:

Figure 2. Overview of the KnowID architecture (Source: adapted from [6])

Its details are described in the article entitled “KnowID: an architecture for efficient Knowledge-driven Information and Data access” [6], which was recently publish in the Data Intelligence journal. In a nutshell: the logic-based EER diagram (with deductions materialised) is transformed into an abstract relational model (ARM) that is transformed into a traditional relational model and then onward to a database schema, where the original ‘background knowledge’ of the ARM is used for data completion (i.e., materializing the deductions w.r.t. the data), and then the query posed in SQLP (SQL + path queries) is answered over that ‘extended’ database.

Besides the description of the architecture and the new transformation rules, the open access journal article also describes several examples and it features a more detailed comparison of the four approaches shown in figure 1 above. For KnowID, compared to other ontology-based data access approaches, its key distinctive architectural features are that runtime use can avail of full SQL augmented with path queries, the closed world assumption commonly used in information systems, and it avoids a computationally costly mapping layer.

We are working on the implementation of the architecture. The transformation rules and corresponding algorithms were implemented last year [7] and two computer science honours students are currently finalising their 4th-year project, therewith contributing to the materialization and query formulation steps aspects of the architecture. The latest results are available from the KnowID webpage. If you were to worry that will suffer from link rot: the version associated with the Data Intelligence paper has been archived as supplementary material of the paper at [8]. The plan is, however, to steadily continue with putting the pieces together to make a functional software system.

References

[1] Schneider, T., Šimkus, M. Ontologies and Data Management: A Brief Survey. Künstl Intell 34, 329–353 (2020).

[2] Calvanese, D., Cogrel, B., Komla-Ebri, S., Kontchakov, R., Lanti, D., Rezk, M., Rodriguez-Muro, M., Xiao, G.: Ontop: Answering SPARQL queries over relational databases. Semantic Web Journal, 2017, 8(3), 471-487.

[3] G. Xiao, L. Ding, B. Cogrel, & D. Calvanese. Virtual knowledge graphs: An overview of systems and use cases. Data Intelligence, 2019, 1, 201-223.

[4] A. Borgida, D. Toman & G.E. Weddell. On referring expressions in information systems derived from conceptual modeling. In: Proceedings of ER’16, 2016, pp. 183–197

[5] W. Ma, C.M. Keet, W. Oldford, D. Toman & G. Weddell. The utility of the abstract relational model and attribute paths in SQL. In: C. Faron Zucker, C. Ghidini, A. Napoli & Y. Toussaint (eds.) Proceedings of the 21st International Conference on Knowledge Engineering and Knowledge Management (EKAW’18)), 2018, pp. 195–211.

[6] P.R. Fillottrani & C.M. Keet. KnowID: An architecture for efficient knowledge-driven information and data access. Data Intelligence, 2020 2(4), 487–512.

[7] Fillottrani, P.R., Jamieson, S., Keet, C.M. Connecting knowledge to data through transformations in KnowID: system description. Künstliche Intelligenz, 2020, 34, 373-379.

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Toward a framework for resolving conflicts in ontologies (with COVID-19 examples)

Among the many tasks involved in developing an ontologies, are deciding what part of the subject domain to include, and how. This may involve selecting a foundational ontology, reuse of related domain ontologies, and more detailed decisions for ontology authoring for specific axioms and design patterns. A recent example of reuse is that of the Infectious Diseases Ontology for schistosomiasis knowledge [1], but even before reuse, one may have to assess differences among ontologies, as Haendel et al did for disease ontologies [2]. Put differently, even before throwing alignment tools at them or selecting one with an import statement and hope for the best, issues may arise. For instance, two relevant domain ontologies may have been aligned to different foundational ontologies, a partOf relation could be set to be transitive in one ontology but is also used in a qualified cardinality constraint in the other (so then one cannot use an OWL 2 DL reasoner anymore when the ontologies are combined), something like Infection may be represented as a class in one ontology but as a property infectedby in another, or the ontologies differ on the science, like whether Virus is an organism or an inanimate object.

What to do then?

Upfront, it helps to be cognizant of the different types of conflict that may arise, and understand what their causes are. Then one would want to be able to find those automatically. And, most importantly, get some assistance in how to resolve them; if possible, also even preventing conflicts from happening in the first place. This is what Rolf Grütter, from the Swiss Federal Research Institute WSL, and I have been working since he visited UCT last year. The first results have been accepted for the International Conference on Biomedical Ontologies (ICBO) 2020, which are described in a paper entitled “Towards a Framework for Meaning Negotiation and Conflict Resolution in Ontology Authoring” [3]. A sample scenario of the process is illustrated informally in the following figure.

Summary of a sample scenario of detecting and resolving conflicts, illustrated with an ontology reuse scenario where Onto2 will be imported into Onto1. (source: [3])

The paper first defines and illustrates the notions of meaning negotiation and conflict resolution and summarises their main causes, to then go into some detail of the various categories of conflicts and ways how to resolve them. The detection and resolution is assisted by the notion of a conflict set, which is a data structure that stores the details for further processing.

It was tested with a use case of an epizootic disease outbreak in the Lemanic Arc in Switzerland in 2006, due to H5N1 (avian influenza): an administrative ontology had to be merged with one about the epidemiology for infected birds and surveillance zones. With that use case in place already well before the spread of SARS-CoV-2 that caused the current pandemic, it was a small step to add a few examples to the paper about COVID-19. This was made possible thanks to recently developed relevant ontologies that were made available, including for COVID-19 specifically. Let’s highlight the examples here, also so that I can write a bit more about it than the terse text in the paper, since there are no page limits for a blog post.

Example 1: OWL profile violations

Medical terminologies tend to veer toward being represented in an ontology language that is less or equal to OWL 2 EL: this permits scalability, compatibility with typical OBO Foundry ontologies, as well as fitting with the popular SNOMED CT. As one may expect, there have been efforts in ontology development with content relevant for the current pandemic; e.g., the Coronavirus Infectious Disease Ontology (CIDO) [4]. The CIDO is not in OWL 2 EL, however: it has a class expressions with a universal quantifier (ObjectAllValuesFrom) on the right-hand side; specifically (in DL notation): ‘Yale New Haven Hospital SARS-CoV-2 assay’ \sqsubseteq \forall ‘EUA-authorized use at’.’FDA EUA-authorized organization’ or, in the Protégé interface:

(codes: CIDO_0000020, CIDO_0000024, and CIDO_0000031, respectively). It also imported many ontologies and either used them to cause some profile violations or the violations came with them, such as by having used the union operator (‘or’) in the following axiom for therapeutic vaccine function (VO_0000562):

How did I find that? Most certainly NOT by manually browsing through the more than 70000 axioms of the CIDO (including imports) to find the needle in the haystack. Instead, I burned the proverbial haystack to easily get the needles. In this case, the burning was done with the OWL Classifier, which automatically computes which axioms violate any of the OWL species, and lists them accordingly. Here are two examples, illustrating an OWL 2 EL violation (that aforementioned universal quantification) and an OWL 2 QL violation (a property chain with entities from BFO and RO); you can do likewise for OWL 2 RL violations.

Following the scenario with the assumption that the CIDO would have to stay in the OWL 2 EL profile, then it is easy to find the conflicting axioms and act accordingly, i.e., remove them. (It also indicates something did not go well with importing the NDF-RT.owl into the cido-base.owl, but that as an aside for this example.)

Example 2: Modelling issues: same idea, different elements

Let’s take the CIDO again and now also the COviD Ontology for cases and patient information (CODO), which have some overlapping and complementary information, so perhaps could be merged. A not unimportant thing is the test for SARS-CoV-2 and its outcome. CODO has a ‘laboratory test finding’ \equiv {positive, pending, negative}, i.e., the possible outcomes of the test are individuals made into a class using the ObjectOneOf constructor. Consulting CIDO for the test outcomes, it has a class ‘COVID-19 diagnosis’ with three subclasses: Negative, Positive, and Presumptive positive. Aside from the inexact matches of the test status that won’t simplify data integration efforts, this is an example of class vs. instance modeling of what is ontologically the same thing. Resolving this in any merging attempt means that either

  1. the CODO has to change and bump up the test results from individuals to classes, or
  2. the CIDO has to change the subclasses to individuals in the ABox, or
  3. take an ‘outside option’ and represent it in yet a different way where both the CODO and the CIDO have to modify the ontology (e.g., take a conceptual data modeling approach by making the test outcome an attribute with a few possible values).

The paper provides an attempt to systematize such type of conflicts toward a library of common types of conflict, so that it should become easier to find them, and offers steps toward a proper framework to manage all that, which assisted with devising generic approaches to resolution of conflicts. We already have done more to realize all that (which could not all be squeezed into the 12 pages), but more is still to be done, so stay tuned.

Since COVID-19 is still doing the rounds and the international borders of South Africa are still closed (with a lockdown for some 5 months already), I can’t end the blog post with the usual ‘I hope to see you at ICBO 2020 in Bolzano in September’—well, not in the common sense understanding at least. Hopefully next year then.

 

References

[1] Cisse PA, Camara G, Dembele JM, Lo M. An Ontological Model for the Annotation of Infectious Disease Simulation Models. In: Bassioni G, Kebe CMF, Gueye A, Ndiaye A, editors. Innovations and Interdisciplinary Solutions for Underserved Areas. Springer LNICST, vol. 296, 82–91. 2019.

[2] Haendel MA, McMurry JA, Relevo R, Mungall CJ, Robinson PN, Chute CG. A Census of Disease Ontologies. Annual Review of Biomedical Data Science, 2018, 1:305–331.

[3] Grütter R, Keet CM. Towards a Framework for Meaning Negotiation and Conflict Resolution in Ontology Authoring. 11th International Conference on Biomedical Ontologies (ICBO’20), 16-19 Sept 2020, Bolzano, Italy. CEUR-WS (in print).

[4] He Y, Yu H, Ong E, Wang Y, Liu Y, Huffman A, Huang H, Beverley J, Hur J, Yang X, Chen L, Omenn GS, Athey B, Smith B. CIDO, a community-based ontology for coronavirus disease knowledge and data integration, sharing, and analysis. Scientific Data, 2020, 7:181.