Phenotype RCN announced

November 24, 2010

NSF has recently funded a Research Coordination Network for researchers who are interested in searching and comparing phenotypes across species and in developing the tools and methods needed in making this possible  (http://phenotypercn.org).  The representation of morphology, behavior and other phenotypic features using computational methods such as ontologies and controlled vocabularies is in its infancy.  Integrating phenotypes with data across all levels of the biological hierarchy, however, is possible if standards are co-developed and coordinated.

This RCN envisions building a broad base of community knowledge and resources so as to maximize the research potential of web-based data.  Funding for participation in meetings, presentations and laboratory exchanges for students, postdocs and faculty from ontology and taxonomic domains (initially plants, arthropods, and vertebrates) is available through the RCN (see http://phenotypercn.org/opportunities/.

We are eager to have you join us!  Please sign up for our participant and mailing lists for further information (http://phenotypercn.org/participants/add/) and feel free to contact one of the PIs (Paula Mabee, pmabee@usd.edu; Andy Deans, andy_deans@ncsu.edu; Eva Huala, huala@acoma.stanford.edu; and Suzanna Lewis, selewis@lbl.gov).


Lapp gives NCBO webinar for Phenoscape

November 17, 2010

Hilmar Lapp gave a great overview today of the ongoing work in the Phenoscape project to 29 participants in the NCBO Webinar series.  This series showcases new projects, technologies and ideas in biomedical ontology, many of which use ontologies for interoperability.  Hilmar presented the biological context (evolution, conservation, development, etc.) into which our work fits, and the challenges involved in representing phenotype.  A videorecording of his talk will be posted in case you missed it.

Update: The slides are also posted on Slideshare


Phenoscape and colleagues meet with PATO on ontology and phenotype representation issues, Sept. 25-27, 2010

November 12, 2010

At the end of September, members of Phenoscape (Mabee, Balhoff), the Hymenoptera Anatomy Ontology (HAO) project (Yoder, Deans, Seltmann) and TAIR (Huala) met with developers of the Phenotype and Trait Ontology (PATO) (Gkoutos, Mungall, Westerfield, Lewis) at the University of Oregon.   Our discussions were focused on finding solutions to problems that have arisen as a result of PATO ontology structure, and problems for representing phenotypes in the EQ model, which have arisen in the course of annotating comparative phenotype data from the fish and hymenoptera literature.  We prepared for this meeting by developing a list of common issues and importantly, specific examples, on a Google doc shared among participants.  We all co-edited this document during the meeting with notes, decisions and examples, and we ‘published’ this Google doc for you all to see.  A number of important changes to the PATO hierarchy were proposed and subsequently made.  We also clarified best practices for modelling some common but tricky phenotypic features. One additional outcome was the participants strong recommendation that a ‘shape jamboree’ be held to improve the usability of this branch of the PATO ontology. Read the rest of this entry »


2010 Semantic Web Workshop

June 16, 2010

I recently attended the 2010 Semantic Web Workshop in Santa Fe, hosted by the SSWAP project and iPlant, at St. John’s College.  This was a two-day workshop, June 7-8, introducing semantic web technologies and applications to biological data and service integration.  The first day was scheduled to be a whirlwind overview of semantic web technologies, beginning with a lecture on the foundations of web logic and reasoning in classic formal logic and moving through RDF, RDFS, and OWL.  However, air travel problems led me to miss the entire first day of the workshop.  Fortunately Damian Gessler, the workshop organizer, provided me with all the slides for the first day upon my arrival, and I was able to somewhat catch up before day 2.  These slides are really a great overview of semantic web technologies and will be a useful resource.

The second day focused on applications to biological data and web services.  A discussion on “taxonomic intelligence” was particularly illuminating.  It provided an example of how different communities can share a set of identifiers for species, for example, yet provide their own set of statements about the taxonomy relating those species.  Each community can draw conclusions relevant to its preferred taxonomy using data associated with the same species.

The afternoon focused on the SSWAP project, led by Damian Gessler.  SSWAP is a protocol which uses OWL documents to describe the inputs and outputs relevant to a web service.  Interestingly, users of these web services would submit their input in the very same OWL model used for service descriptions.

In Phenoscape, we are using OBO ontologies rather than RDF and OWL and storing our ontological annotations in OBD, a datastore tailored for OBO technologies which provides its own very effective reasoner.  However, this workshop provided a great opportunity to stay up to date with semantic web standards and explore how to make our data compatible with and part of the global semantic web.  In addition, St. John’s College was a great meeting location – it is a small college with a wonderful natural landscape in the hills outside of Santa Fe.


Vertebrate skeletal anatomy workshop

May 4, 2010

Probably the most important branch of an anatomy ontology for vertebrates – at least from the standpoint of comparative morphologists, paleontologists, systematists – is the skeleton.  We invited a small group of bone and cartilage experts to come to a workshop at NESCent April 9-10, 2010, with the goal of reviewing, revising, and altogether enhancing the skeletal branch of the various vertebrate anatomy ontologies.  We had representation from the amphibian and teleost multispecies anatomy ontologies, the vertebrate model organism ontologies (zebrafish, Xenopus, mouse), and the cell ontology, as well as expert ontologists to advise on best representation (see our wiki page for their names and slides from their brief introductory presentations).  The workshop was productive beyond our expectations: we produced a ‘generic’ skeletal ontology that can be plugged into all vertebrate anatomy ontologies.  The files (including the useful cmap files) are under review by workshop participants at the moment, and we will be posting the outcome as a Vertebrate Skeletal Ontology in the obo foundry within the month.  Let us know if you want to review some giant spreadsheets of bone terms and relationships in the next few weeks….


New article on the Teleost Anatomy Ontology published in Systematic Biology

March 30, 2010

We are pleased to announce the publication of the article “The Teleost Anatomy Ontology: Anatomical Representation for the Genomics Age” in Systematic Biology.  The paper describes how we developed this multispecies anatomy ontology for the annotation of systematic characters, and general solutions to various challenges in representing anatomical structures across a diverse clade of fishes.

Open access links to online versions of the paper are given below:

Wasila M. Dahdul; John G. Lundberg; Peter E. Midford; James P. Balhoff; Hilmar Lapp; Todd J. Vision; Melissa A. Haendel; Monte Westerfield; Paula M. Mabee.  2010.  The Teleost Anatomy Ontology: Anatomical Representation for the Genomics Age.  Systematic Biology.  View full text or download PDF.


Phenoscape internship experience

February 23, 2010

Hello all,

As an online student of Bioinformatics based in Nairobi, Kenya, I had a strong desire to undertake a project that would enhance my knowledge and skills in software development. Hence, after completing MSc. Course work at the University of Manchester, UK, I was happy to be awarded an internship from the Phenoscape project for an 11-week traineeship beginning September 21st, 2009 at the National Evolutionary Synthesis Center (NESCent). This project seeks to establish the developmental and genetic basis of the astonishing morphological heterogeneity across diverse species. In addressing this, a rich and rigorous knowledge base, PhenoscapeKB, constituting evolutionary variable characters across a clade of fishes connected to mutant phenotypes from ZFIN has been developed. Core to the PhenoscapeKB is the modeling of the character entities   using ontologies thus facilitating the knowledge synthesis via logical/mathematical reasoning. Read the rest of this entry »


Phenoscape solicits feedback on new interfaces at AmphibAnat Kansas City meeting

December 4, 2009

In early November Wasila and I attended the AmphibAnat workshop in Kansas City, MO (Nov. 5-8) that was organized by Anne Maglia. As you may know, Phenoscape has a close relationship with this group, not only because they work on herps (ichthyologists and herpetologists have a long tradition of working together…), but because they are also developing ontologies to annotate the published comparative anatomical literature. I presented the status of our work in Phenoscape to the large group (~40) of amphibian development and anatomy experts who were present. As these folks added new terms, synonyms, and images to the amphibian ontologies over the course of the next few days, we solicited comments on the prototypes of three new interfaces for the Phenoscape Knowledgebase. Using both images and paper copies of these prototypes, we invited people to sit down with us on a one-on-one basis and describe in detail what worked and what was missing or unclear. The feedback was extremely useful, and we appreciated the AmphibAnat time. We have now gone over all the comments within Phenoscape and logged them individually to FogBugz, our internal tracking system. We’ll be generating new versions of these prototypes through early February, when we plan a formal round of usability testing.


ICBO Summary

August 12, 2009
While the rest of Phenoscape was at ASIH running the ontology workshop and announcing the database and website release, I was across the country, representing Phenoscape at the International Conference on Biomedical Ontologies in Buffalo, NY.
ICBO covered 2-3/4 days (July 24-26) of presentations with two evening poster sessions.  There were
also software demos during the lunch breaks, and two panel discussions.
Although there were several sessions devoted to ontologies of disease and clinical practice, there
were a number of talks of interest to Phenoscapers.  Among these were several alignment talks, including
one from the BGEE group on Homonto and Chris Mungall’s on cross products and Uberon.  There were also sessions
on annotation and natural language processing (NLP), including Mike Bada’s talk on developing a corpus for testing NLP based annotation.
There were also two talks specifically about ontologies and physiology, one by John Gennari focused on integrating
existing anatomy ontologies (e.g., FMA) with physiological simulations, though he specifically ducked ontological
modeling of physiology as process.  The other was an ‘old school AI’ simulation of a patient, that includes models of
physiology, cognition, and NLP.
There was also some promising activity on behavior ontologies, including a poster by Tim Beck, a postdoc from the UK on a mammalian behavior ontology
and a ‘behavior lunch’ on the second day, with Tim, Judy Blake, David Shotton (ABO collaborator from Oxford), Mary Shimoyama (RGD), and several others.
There is a European plan to develop a new OWL-based general behavior ontology, and Chris Mungall has recently established an OBO-behavior list ().
There was also a lot of discussion generated by the proposed ontology of homology relations (the 1.0 version; 1.1 released recently(http://bgee.unil.ch/bgee/download/homology_ontology_v1.1.obo)), although the consensus from the numerous people I discussed
it with was that it needed more work (which is happening).
Other interesting ontologies included an ontology of Evolutionary processes presented in a poster by Adam Goldstein (Iona University).  He’s since been in
contact with Hilmar, and I believe with representatives of CDAO and Dryad.  Phenoscape was also represented by a poster.
There were two panels, one focussing on Ontology and Publishing.  Although the lineup, which included
a representative from Elsevier (Jabe Wilson) and Alan Ruttenberg from Science Commons suggested a discussion
on open publishing, the Elsevier representation was quiet restrained, and it was Larry Hunter who made the strongest argument that publishers currently
provide little value to academics.  David Shotton discussed his semantic annotation of a randomly selected paper on an infectous disease.
The second panel was on the Future (and past) of ontologies and knowledge representation.  I think the two memorable claims from this discussion
were the call to expand the A-box (since the T-box is really less than most people think) and Barry Smith’s claim that in 25 years consulting ontologies
will be as common in biology and medical departements as statisticians are today.
The text from all the presentations and posters will be made available at Nature Proceedings (http://precedings.nature.com/collections/icbo-2009).  There was
also an ICBO group on FriendFeed (http://friendfeed.com/icbo) with other attendee’s tweets from the conference and preceeding tutorial sessions.  Finally, I will
be posted a more detailed report on my personal blog (http://ontethology.blogspot.com).

While the rest of Phenoscape was at the ASIH meeting, involved with the ontology workshop and the release of the database and website, I was across the country, representing Phenoscape at the International Conference on Biomedical Ontologies (ICBO) in Buffalo, NY.  ICBO covered 2-3/4 days (July 24-26) of presentations with two evening poster sessions. There were also software demos during the lunch breaks, and two panel discussions.

Although many of the sessions were devoted to ontologies of disease and clinical practice, there were a number of talks of interest to Phenoscapers. Read the rest of this entry »


Adding Instances To Ontologies

August 24, 2008

As we proposed in an earlier post, we have been developing an alternative to the traditional approach of representing taxonomy in ontologies. This alternative represents species (and currently higher taxa) as individuals in the ontology.

There is another phenoscape ontology that would benefit from the use of individuals: our ontology (ok, it’s really a vocabulary) of research collections of fish. Part of our process for curating anatomy papers involves constructing a list of all the specimens reported in the paper (generally the author includes this in the paper, but we enter it to facilitate annotation). The specimen lists consist of collection names and numbers. Although research collections are supposed to have standardize names and abbreviations, practice does not always reflect these standards: the same collection may be abbreviated in different ways by different authors, and collections occasionally merge and the smaller collections might disappear into larger ones or be renamed.

So we constructed a vocabulary of fish collections with their 4-5 letter abbreviations, longer name and possible synonyms. Now a research collection contains individual specimens, but these are parts of a collection, not subtypes of a particular collection, and therefore, the collection is best represented as an individual, not a class. So, the collections vocabulary, represented as an OBO ontology, should ideally use OBO instances (which exist to represent individuals), rather than terms for the collections.

Unfortunately, the current version of OBO-Edit, although it will read and save ontologies containing Individuals, provides no facility for either viewing or editing these individuals. Furthermore, although there are several OWL editors that would allow us to work with Individuals, there are no OBO<->OWL translators that understand what to do with OWL individuals, so they are just omitted in the OBO translation, even though the OBO file format, since version 1.2, has supported Instance ‘stanzas.’ Read the rest of this entry »