@conference {ICBO_2018_11, title = {ICBO_2018_11: Planteome \& BisQue: Automating Image Annotation with Ontologies using Deep-Learning Networks}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

The field of computer vision has recently experienced tremendous progress due to advances in deep learning. This development holds particular promise in applications for plant research, due to a significant increase in the scale of image data harvesting and a strong field-driven interest in the automated processing of observable phenotypes and visible traits within agronomically important species. Parallel developments have occurred in semantic computing; for example, new ontologies have been initiated to capture plant traits and disease indicators. When combined with existing segmentation capabilities, it is possible to conceptualize software applications that give researchers the ability to analyze large quantities of plant phenotype image data, and to auto-annotate that data with meaningful, computable semantic terminology. We have previously reported on a software application that integrates segmentation and ontologies, but lacked the ability to manage very high-resolution images, and also lacked a database platform to allow for high-volume storage requirements. We have also previously reported our migration of the AISO user-guided segmentation feature to a BisQue (Bio-Image Semantic Query User Environment) module to take advantage of its increased power, ability to scale, secure data management environment, and collaborative software ecosystem. Neither AISO nor our initial BisQue implementation possessed a machine-learning component for interpreting (parts of) images. Plant researchers could benefit greatly from a trained classification model that predicts image annotations with a high degree of accuracy. We have therefore implemented two deep-learning prototypes: a coarse classification module for plant object identification (i.e. flower, fruit) and a fine-grained classification module that focuses on plant traits (e.g. reticulate vs. parallel venation, tip shape). Both classification models return results mapped to ontology terms as a form of annotation enrichment. This current version of the Planteome Deep Segmenter module combines image classification with optional guided segmentation and ontology annotation. We have most recently run the module on local Planteome BisQue client services, and are currently working with CyVerse to install a hosted version on their BisQue client service.

}, keywords = {annotation, convolutional neural networks, deep learning, image analysis, machine learning, Ontology, segmentation}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_11.pdf}, author = {Dimitrios Trigkakis and Justin Preece and Austin Meier and Justin Elser and Kris Kvilekval and Dmitry Fedorov and B.S. Manjunath and Pankaj Jaiswal and Sinisa Todorovic} } @conference {ICBO_2018_12, title = {ICBO_2018_12: Transforming and Unifying Research with Biomedical Ontologies: The Penn TURBO project}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

The Penn TURBO (Transforming and Unifying Research with Biomedical Ontologies) project aims to accelerate finding and connecting key information from clinical records for research through semantic associations to the processes that generated the clinical data. Major challenges to using clinical data for research are integrating data from different sources which may contain multiple references to the same entity (e.g., person, health care encounter) and incomplete or conflicting information (e.g., gender, BMI). There is also the need to track the provenance of information used when making decisions on what is the actual phenotype of a person. We take a realism-based ontology approach to address these problems through transformation and instantiation of clinical data with an OBO-Foundry based application ontology in a semantic graph database. We have developed an application stack and used it on an 11,237 whole exome sequencing patient cohort capturing key demographics, diagnosis codes, and prescribed medications. The anticipated payoff is to be able to make use of inferencing provided by the semantics to classify and search for instances of people and specimens with desired characteristics.

}, keywords = {clinical data, diagnosis codes, OBO Foundry, prescriptions, realism-based ontology, referent tracking}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_12.pdf}, author = {Christian Stoeckert and David Birtwell and Hayden Freedman and Mark Miller and Heather Williams} } @conference {ICBO_2018_3, title = {ICBO_2018_3: Ontology based data architecture to promote data sharing in electrophysiology}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

Efforts to improve the preservation, searchability, and discoverability of research data are a priority. To facilitate these efforts in cell electrophysiology and biophysics we propose that ontologies be used to design and annotate data, as they provide a substantive metadata structure, with reasoned definitions arranged in a logical, hierarchal structure where the meaning of data are unambiguously assigned. We illustrate this by describing our cell electrophysiology data with an ontology. We then make this hierarchal structure with definitions the basis of the data architecture which is implemented upon transforming the data into the storage format: Hierarchical Data Format version 5 (HDF5).

}, keywords = {auditory, data management, HDF5, outer hair cell}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_3.pdf }, author = {Brenda Farrell and Jason Bengtson} } @conference {ICBO_2018_52, title = {ICBO_2018_52: The integrative use of anatomy ontology and protein-protein interaction networks to study evolutionary phenotypic transitions}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

Studying evolutionary phenotypic transitions, such as the fin to limb transition, is popular in evolutionary biology. The recent advances in next-generation technologies have accumulated large volumes of genomics and proteomics data, which can be used to analyze the genetic basis for evolutionary phenotypic transitions. Protein-protein interaction (PPI) networks can be used to predict candidate genes and identify gene modules related to evolutionary phenotypes; however, they suffer from low gene prediction accuracy. Therefore, an integrative framework was developed using PPI networks and anatomy ontology, which significantly improved the accuracy of network-based candidate gene predictions in zebrafish and mouse. This integrative framework will also be used to identify gene modules associated with the fin to limb transition and to study the changes in these modules which lead to the phenotypic change.

}, keywords = {anatomy ontology, data integration, gene prediction, network analysis, protein-protein interactions}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_52.pdf }, author = {Pasan Fernando and Erliang Zeng and Paula Mabee} } @conference {ICBO_2018_53, title = {ICBO_2018_53: Visualization of gene expression and expression as a phenotype with the XPO, XAO and DO using a combination of experimental data sources}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

Xenbase (www.xenbase.org) is a knowledge base for researchers and biomedical scientists that employ Xenopus (X. laevis and X. tropicalis) as a model organism in gaining a deeper understanding of developmental and disease processes. Through expert curation and automated data provisioning from various sources this MOD (model organism database) strives to integrate the Xenopus body of knowledge together with the visualization of biologically significant interactions. We present a vision for the usage of various ontologies that facilitate the visualization of gene expression from a combination of experimental data sources and the linking thereof back to human disease modeling. In keeping with the philosophy to foster greater insight through the use of visualization techniques that bring together data from different sources and show trends in the large body of experimental and curated data in Xenbase. The approach has been taken to represent key developmental stages and selected embryonic/adult tissue anatomy terms with a modified heat map rendering. This gives us the combined results from the in-situ gene expression summary as well as normalized TPM read counts (Sessions et al.) and UMI counts from the single cell experiment data (Peshkin et al.). Through the acquisition of RNA-seq and ChIP-seq Xenopus data from GEO and subsequent processing through a bioinformatics pipeline to obtain average TPM read counts and differential expression readings. This enables the subsequent construction and visualization of EaP (Expression as a Phenotype) in conjunction with the XPO (Xenopus Phenotype Ontology) and DO (Disease Ontoloty). This data manipulation has practical application in making the information accessible from gene pages and linking back to the source (eg:article/image). If you use Xenbase resources in your research please consider citing us, for example Nucleic Acids Res. 2018 46(D1):D861-D868.

}, keywords = {biocuration, gene expression, genomics, human disease modeling, model organism database, xenopus anatomy ontology, xenopus phenotype ontology}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_53.pdf }, author = {Troy Pells and Malcolm Fisher and Erik Segerdell and Joshua Fortriede and Kevin Burns and Stanley Chu and Praneet Chaturvedi and Christina James-Zorn and Vaneet Lotay and Mardi Nenni and V.G. Ponferrada and Dong Zhou Wang and Ying Wang and Kamran Karimi and Peter Vize and Aaron Zorn} } @conference {ICBO_2018_61, title = {ICBO_2018_61: Using the Oral Health and Disease Ontology to Study Dental Outcomes in National Dental PBRN Practices}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {

The use of electronic dental records (EDR) has grown rapidly over the past decade, but the development of methods to use EDR data for research and quality improvement is still in its infancy. In this poster, we present our work in which use the Oral Health and Disease Ontology to integrate EDR data from 99 National Dental PBRN practices in order to study the longevity of posterior composite restorations and the rate of tooth loss following root canal treatments.

}, keywords = {dental procedure, dental research, Ontology, posterior composite restoration, root canal treatment}, url = {http://ceur-ws.org/Vol-2285/ICBO_2018_paper_61.pdf }, author = {William Duncan and Thankam Thyvalikakath and Zasim Siddiqui and Michelle LaPradd and Chen Wen and Jim Zheng and Anna Roberts and Daniel Hood and Titus Schleyer and Aparna Manimangalam and Donald Rindal and Mark Jurkovich and Tracy Shea and David Bogacz and Terrence Yu and Jeffry Fellows and Valerie Gordan and Gregg Gilbert} } @conference {ICBO_2018_63, title = {ICBO_2018_63: GO-MAP Implements CAFA Tools: Improved Automated Gene Function Annotation for Plants}, booktitle = {International Conference on Biomedical Ontology (ICBO 2018)}, series = {Proceedings of the International Conference on Biological Ontology (2018)}, year = {2018}, month = {08/06/2018}, publisher = {International Conference on Biological Ontology}, organization = {International Conference on Biological Ontology}, abstract = {Maize is both a crop species and a model for genetics and genomics research. As such, maize GO annotations produced by the community data projects Gramene and Phytozome are widely used to derive hypotheses for both crop improvement and basic science. Our maize-GAMER project assessed existing maize GO annotations and to implement and test the performance of some of the most commonly used GO prediction tools (i.e., Reciprocal Best Hits and domain presence) alongside three of the top performing tools submitted for evaluation in the CAFA1 (Critical Assessment of protein Function Annotation) competition. All datasets were compared based on F-score using an independent gold-standard dataset (2002 GO annotations for 1,619 genes) provided by MaizeGDB. In addition to producing and comparing these individual GO annotation sets, we also combined the datasets we generated to produce a maize-GAMER aggregate annotation set. Compared to Gramene and Phytozome, the maize-GAMER aggregate set annotates more genes in the maize genome and assigns more GO terms per gene. In addition, the maize-GAMER dataset{\textquoteright}s functional assignments are comparable to Gramene and Phytozome overall (based on F-score). These findings have been published, and the maize-GAMER GO annotations are available via CyVerse and MaizeGDB. Here we review the methods and describe GO-MAP, the pipeline used to generate these datasets. GO-MAP has been containerized to facilitate gene function annotation for other plant proteomes and will be released via CyVerse in the very near future.}, keywords = {assessment, CAFA, function, gene ontology}, url = {http://icbo2018.cgrb.oregonstate.edu/}, author = {Kokulapalan Wimalanathan and Carson Andorf and Iddo Friedberg and Carolyn Lawrence-Dill} }