Notes from TDWG 2011

November 22, 2011

Last month, I (Jim Balhoff) and Hilmar Lapp attended the Biodiversity Information Standards meeting (TDWG 2011), in New Orleans. As a representative of both Phenoscape and the Hymenoptera Anatomy Ontology project, I presented a poster, with co-authors Matt Yoder and Andy Deans, detailing an OWL model showing the explicit semantics of linking an Entity–Quality (EQ) phenotype to evolutionary character matrix data and taxonomic specimens. While EQ can be thought of as simple ontological tags on descriptive data, modeling phenotypes within a more explicit logical framework allows us to make use of more powerful automated reasoning. It also provides a consistent interpretation for EQs across projects annotating phenotypes (for example, Phenoscape and HAO). 

Of particular relevance to our poster was another presented by Cam Webb. Cam has created an OWL-compatible version of Darwin Core which can be used to describe specimen metadata in RDF. We made similar use of Darwin Core in our poster, but we are looking into adopting Cam’s Darwin-SW for this part of the model.

Overall there was a lot of interest in semantic technologies at TDWG, ranging from the initial meeting of an RDF/OWL working group to other projects that are not using semantic technologies but seem well suited for RDF.


My Experience as a Phenoscape Training Fellow

November 22, 2011

While working to describe two species of lizardfish (Synodus) with Carole Baldwin at the Smithsonian National Museum of Natural History, she received an email from Paula Mabee asking if she knew or had any students interested in working on the Phenoscape Project. I had realized that with advances in technology and communication, evolutionary biology and all science was headed towards a future of large-scale interdisciplinary collaborations to help address big questions and make tools and data readily available. Therefore, I immediately jumped on the opportunity to work on Phenoscape!

With the support of funding from DeepFin, I started my internship with Phenoscape at the National Evolutionary Synthesis Center (NESCent) in August 2011. My three months here at NESCent have flown by and even though it is my last day, I am just as excited about the project as the day I started! Working with Wasial Dahdul, Peter Midford and Jim Balhoff has enabled me to learn and understand a great deal about databases, collaboration and morphology. Phenoscape has completely changed the way I think about phenotypic characters. Breaking them down into logical statements in Phenex really allows you to understand a character as it fits in the bigger picture. I was able to work with Wasila in forging interdisciplinary ties by contributing to other ontologies and databases, such as PATO and PaleoDB. Additionally, working to assist in the expansion of Phenoscape to incorporate all vertebrates taught me a lot about the origins of vertebrates and the plethora of prehistoric life I did not realize existed- including my new personal favorite prehistoric fish, Jagorina!

NESCent is an amazing place. Being one of the few people here without a higher degree or a long list of publications under their belt, I was initially a little intimidated. However, the informatics group, post-docs and professors have been great and pushed me to participate in seminars and intellectual discussion. This is a stimulating environment that facilitates thinking outside the box and looking at bigger picture issues in evolutionary biology.

I am excited to continue my work on Phenoscape offsite back at the Smithsonian and I hope to contribute throughout my graduate career in Dr. Brian Sidlauskas’s (former NESCentian and Phenoscape tester and contributor) lab at Oregon State University.

Ben Frable
Graduate Student, Oregon State University
Student Researcher, Smithsonian National Museum of Natural History


Notes from ISWC 2011

November 3, 2011

Last week, I attended the 10th International Semantic Web Conference (ISWC) in Bonn, Germany. A tremendous variety of sophisticated work is going on both in academia and industry to improve the technology for, and take advantage of, the ever-growing network of data and concepts published, through open standards, on the web.

You might say it is the best of times and the worst of times for semantic web enthusiasts, in that reasoning and query engines that can be used on large collections of RDF have in the last few years become a reality (one of the Challenge Tracks provided contestants with a *billion* triples to work with).  But some see clouds on the horizon. The web search titans (Bing, Google and Yahoo!) are now pushing schema.org, a microformat and vocabulary standard for web content that some worry may threaten the development of richer semantic web technology.  Still, most treated the news positively, happy to know that these organizations now seem to agree on the importance of semantics.  In fact, Yahoo! described at the conference how they are trying to build a “Web of Objects” that takes advantage of scheme.org, together with more extensive internal vocabularies, to regroup knowledge pieces that are scattered around the Web.

Conference chair Natasha Noy showed a revealing pair of tag clouds comparing the abstracts from the first year of the conference in 2001 to today — the terms “semantic” and “web” have shrunk in importance and “data” is now king! ISWC 2011 tag cloud

Ivan Herman’s blog gives a good sampling of the flavor of talks presented at the meeting.  I especially enjoyed the Industry Track, since these applications are less familiar to me than the academic/scientific ones, and  I was particularly impressed by the importance of semantic technologies to the news media and other content industries.  These technologies are being deployed by news organizations with great enthusiam (e.g. the BBC).  I also came away with a strong sense that semantic technologies are helping to create demand, and drive a revolution in the use of, Open Government Data; there were a number of demonstrations of useful real-world applications, particularly to environmental monitoring.

With my Phenoscape hat on, I attended a Linked Open Data for Science (LISC) satellite workshop prior to the main conference.  The event included both presentations and discussions from a variety of perspectives about the opportunities and challenges of this new technology.  A diversity of fields were represented (social science, linguistics, geosciences, biomedicine, etc.).  But, it is clear that uptake of linked open data as an alternative means of publication is still in its infancy within the sciences.  This despite the fact that the bioinformatics data centers account for nearly a quarter of the real estate in the famous linked data cloud diagram.  Some of the most exciting opportunities, in my opinion, come from the ability to allow radically decentralized data publication, and this is something that we might wish to pilot in a modestly distributed data curation environment like Phenoscape.  Another observation: I was surprised to discover at the meeting how much the utility of the linked data cloud (and, by extension, the semantic web) depend on the social convention by which everyone provides links into a relatively small number of large ‘concept repositories’ like DBPedia (which was originally a Master’s project, BTW).

The breakout discussion sessions at LISC  highlighted how scientific practice will place difficult demands on linked data with respect to provenance, context, granularity, distributed authority, etc.  This resonated with the message of our own contribution to the workshop, which outlined some of the particular challenges in making context-dependent links between scientific objects, when the descriptions of those objects are scattered across different resources, and when the similarities between objects are spread weakly over many properties [1].  Another important question that hit home for a number of us coming from the bioinformatics and biodiversity informatics world is how scientists are going to be able to take advantage of the innovations now going on in the commercial sector (including some of the exhibitors at the main conference) within the constraints and DIY culture of small individual university-based research grants.

There is no denying the explosion in linked data resources out there (comparisons of the growth in the cloud diagram are about as common as graphs showing the growth in sequence data at a biology conference).  But another recurrent theme of the meeting was that unfortunately much of that content is missing semantics (i.e. a lack of use or availability of ontologies for many concepts, and lack of links between content at different endpoints), and generating semantically annotated triples needs to be easier that it currently is (a message certainly relevant to those of us developing curation tools).

One of the keynotes, from Frank van Harmelen, generated quite a bit of buzz.  He looked back on 10 years of the semantic web, asking what theoretical principles we can learn from the experience so far, and his annotated slides are well worth a look.

The conference was a great mix of different formats.  In addition to the keynotes and regular talks, there are a host of workshops and tutorials, challenges, panel discussions (including one billed as a ‘Death Match’), and even a special competition for the best “Outrageous Ideas”.  The winner of that one was a proposal to bring linked data to the non-networked portion of humanity.  A particularly nice feature of the meeting was the ‘Minute Madness’ preceding the poster session in which each of the poster presenters gave a short timed pitch with to all the attendees – it was a very entertaining and informative way to ‘see’ every poster and allowed everyone to quickly pick out which ones to hit during the session.

For more, see the excellent day-by-day summary of the meeting from Juan Sequeda, where there are links to all the winning presentations and challenge entries.  [Ironically, the conference website is down temporarily while it is being moved, so come back later if the links to the papers hang].  The next ISWC will be November 11-15, 2012 in Boston.

Reference:

[1] Vision T, Blake J, Lapp H, Mabee P, Westerfield M (2011) Similarity Between Semantic Description Sets: Addressing Needs Beyond Data Integration, in Proceedings of the First International Workshop on Linked Science, Bonn, Germany, October 24, 2011, Tomi Kauppinen, Line C. Pouchard, Carsten Kessler (eds), published in CEUR Workshop Proceedings, Volume 783.


Phenoscape visits Xenbase for Anatomy Ontology Update

September 23, 2011

Last month I visited Xenbase and Aaron Zorn’s lab at the Cincinnati Children’s Hospital for a couple of days (August 21-23, 2011) to work with Xenbase curators in preparing the Xenopus Anatomy Ontology (XAO) for its next big release.  Xenbase curators Christina James Zorn and VG Ponferrada have been leading the effort, and Erik Segerdell, the ontology development coordinator for the Phenotype RCN and former Xenbase curator, was also visiting for the week and helping with the update. Erik and I provided training in ontology editing and synchronization tools. Read the rest of this entry »


ICBO 2011

August 11, 2011

Jim Balhoff and I recently attended the International Conference on Biomedical Ontology (ICBO) held 26-30 July in Buffalo, NY. The conference focused on the use and development of ontologies in the biological and biomedical domains. Of particular interest to Phenoscape were the workshops and tutorials held during the two days before the main conference. Topics included ontology integration, Common Logic, ontology development tools, and using OBO and OWL formats for ontology development and reasoning.

We presented talks at the Facilitating Anatomy Ontology Interoperability workshop. Jim’s talk was on representing taxa as individuals in OWL, an alternative to the common representation of taxa as classes, which facilitates annotation of phenotypic data involving polymorphism and evolutionary reversals.  I presented a lightning talk on the anatomy ontology synchronization requirements for linking evolutionary and model organism phenotypes.  Other presentations from the workshop are available here. We also presented a poster describing the reasoning used in the Phenoscape Knowledgebase.

The main conference included interesting talks on a broad range of topics including the application of ontologies to proteins, diseases, biological mechanisms, and electronic health records. Presentations can be downloaded here.


Postdoctoral Opportunity: Semantic Reasoning for Biological Phenotypes

July 28, 2011

We seek a postdoctoral researcher in computational biology for Phenoscape.  This person will contribute to two important research strands within the project:

  1. Development of computational and statistical methodology for measuring semantic similarity between sets of phenotypes, in order to support searches within extremely large phenotype datasets.
  2. Development and testing of methods for automatically generating ontologically based phenotype expressions from structured excerpts of natural language.

The position is based in the informatics group at the National Evolutionary Synthesis Center (NESCent), and will be administered through the University of North Carolina at Chapel Hill (UNC-CH) under the supervision of Hilmar Lapp at NESCent and Dr. Todd Vision at UNC-CH.   The research will be in collaboration with Dr. Chris Mungall at Lawrence Berkeley National Lab and Dr. Hong Cui at the University of Arizona.  The project also includes biologists and bioinformaticists from the University of South Dakota, the University of Chicago, the University of Kansas, in addition to the model organism databases for mouse (MGD), zebrafish (ZFIN), and Xenopus (Xenbase).

Applicants should have a PhD in bioinformatics, computational biology or a related field. Prior experience with machine reasoning using ontologies is strongly preferred. The position is for two years, pending satisfactory performance and availability of funds.  To apply, please provide a cover letter, CV, and contact information for three references.  Inquiries and applications may be sent to Hilmar Lapp at hlapp@nescent.org.  The post is open immediately and will remain open until filled.


CSHALS 2011

March 9, 2011

I recently attended the Conference on Semantics in Healthcare and Life Sciences (CSHALS), in Cambridge, MA. The CSHALS meeting was a change for me in that it’s much more healthcare-oriented than other venues in which I’ve presented work from Phenoscape. This was a great opportunity to see how far the healthcare community has pushed semantic web technologies, and also to become more familiar with some of the more commercial packages which are available for storing and querying very large knowledgebases based on RDF (for example, AllegroGraph and Gruff from Franz, Inc., and Sentient Knowledge Explorer from IO Informatics). A particularly interesting talk was the keynote by Toby Segaran, of Metaweb Technologies, advocating semantic techniques as a more agile approach to data. Slideshows from the conference presentations are available for download here, including my own.


Third beta release of Phenoscape Knowledgebase 2.0

February 7, 2011

Phenoscape Knowledgebase 2.0 beta release 3 is now available at http://kb.phenoscape.org/. This version includes an enhanced publication info interface [example] which displays the original character matrix, as well as a list of taxa including the taxonomic names and museum specimens used in the dataset. Other recent developments in the KB are global term info popups and hierarchical browsing of ontology terms on their info pages [example].

We have also improved our software and data release processes so that the public Knowledgebase can easily keep up with new developments and the latest data updates from our curators. Looking forward, the next major feature to be added to the Knowledgebase is a faceted browsing interface which is currently under development. This interface should help provide an overview of how the data are organized within the various ontologies used in the Knowledgebase.


Introducing the Vertebrate Anatomy Ontology

January 12, 2011

The Vertebrate Anatomy Ontology (VAO) was recently developed as a high-level, bridging ontology for existing and future single species (e.g., zebrafish, mouse, Xenopus) and multispecies (teleosts, amphibians) vertebrate ontologies. We initiated VAO at a Phenoscape workshop held at NESCent in April 2010. VAO was developed to accommodate the various ways that biologists classify bones and cartilages, as distinct elements and tissue types, and based on developmental and locational criteria. After substantial review by experts in comparative anatomy, paleontology, systematics, and anatomy ontologies, VAO was submitted to the Open Biological and Biomedical Ontologies (OBO) Foundry and committed in December 2010.  The ontology currently contains 127 defined terms and 63 synonyms for cells, tissues, skeletal elements, skeletal system parts, and biological processes. Cross references to several existing ontologies (Cell Type Ontology, Common Anatomy Reference Ontology, GO Biological Process) are included, thus connecting vertebrate ‘sub’ onotologies to a wealth of additional data.  A mansucript detailing the VAO and evaluating the benefits of its use is in preparation.


Matching Phenotypes

December 17, 2010

An important goal for the Phenoscape project is to be able to suggest candidate genes that may have contributed to evolutionary change.  The way that we have proposed to do this is to search for changes in phenotype that appear as the result of mutations in model organisms and also appear as phenotype changes on an evolutionary tree.  There are several challenges in designing this search, apart from simply recognizing similar phenotypes, that we have been working on during the past few months.

The first issue is that we are interested in changes in phenotype, not simply matching phenotypes.  For phenotypes associated with mutants of model organism mutants, it is understood that they vary with respect to the wild type.  For taxa, however, this means looking for taxonomic nodes where variation in a phenotype is observed among the children of the node.  For example, there are nine species within the genus Aspidoras with annotations for the shape of the opercle bone.  Of these, eight exhibit opercle bones with round shape, but the ninth (A. pauciradiatus) is annotated with a triangular opercle.  In contrast, all three annotated species of the related Hoplosternum are annotated with a triangular opercle.  Thus there is detectable variation in opercle shape within the children of Aspidoras, but not within  Hoplosternum - suggesting that change in opercle shape has occurred somewhere among the descendants of  Aspidoras. For our analysis, identifying variation among descendants is important.

Thus, our search for shared variation in phenotypes focuses on matching phenotypes associated with genes with phenotypes of taxa showing variation.  However we are looking for matches at a larger scale than single phenotypes; we are looking for matches across the set of phenotypes affected by a gene or the set of features that have changed among the descendants of a taxonomic node.   We refer to these sets of phenotypes as the ‘phenotypic profile’ of a gene or taxon, following a seminal paper by Washington et al. 2009.  Washington et al. propose four metrics (three based on ‘information content’) to score matches between the sets of phenotypes in a pair of profiles.

In the course of developing the search, we have encountered several important differences in curation approach between ZFIN and Phenoscape.  In some cases tehre are different uses of PATO to model the same phenotype, for example the absence of an entity.  In other cases ZFIN uses a quality ‘abnormal’ that applies to mutants, but not in a taxonomic, comparative sense, which means these phenotypes will be inaccessible to us.  Thus, implementing this search is helping us to better understand our data and our choices in modeling the data and how it interoperates with other ontology-based data.  Such reflection would have been difficult or impossible without the use of ontologies to represent the phenotypes.


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