Quality assurance of the gene ontology using abstraction networks
Document Type
Conference Proceeding
Publication Date
6-1-2016
Abstract
The gene ontology (GO) is used extensively in the field of genomics. Like other large and complex ontologies, quality assurance (QA) efforts for GO's content can be laborious and time consuming. Abstraction networks (AbNs) are summarization networks that reveal and highlight high-level structural and hierarchical aggregation patterns in an ontology. They have been shown to successfully support QA work in the context of various ontologies. Two kinds of AbNs, called the area taxonomy and the partial-area taxonomy, are developed for GO hierarchies and derived specifically for the biological process (BP) hierarchy. Within this framework, several QA heuristics, based on the identification of groups of anomalous terms which exhibit certain taxonomy-defined characteristics, are introduced. Such groups are expected to have higher error rates when compared to other terms. Thus, by focusing QA efforts on anomalous terms one would expect to find relatively more erroneous content. By automatically identifying these potential problem areas within an ontology, time and effort will be saved during manual reviews of GO's content. BP is used as a testbed, with samples of three kinds of anomalous BP terms chosen for a taxonomy-based QA review. Additional heuristics for QA are demonstrated. From the results of this QA effort, it is observed that different kinds of inconsistencies in the modeling of GO can be exposed with the use of the proposed heuristics. For comparison, the results of QA work on a sample of terms chosen from GO's general population are presented.
Identifier
84974527326 (Scopus)
Publication Title
Journal of Bioinformatics and Computational Biology
External Full Text Location
https://doi.org/10.1142/S0219720016420014
e-ISSN
17576334
ISSN
02197200
PubMed ID
27301779
Issue
3
Volume
14
Grant
R01CA190779
Fund Ref
National Cancer Institute
Recommended Citation
Ochs, Christopher; Perl, Yehoshua; Halper, Michael; Geller, James; and Lomax, Jane, "Quality assurance of the gene ontology using abstraction networks" (2016). Faculty Publications. 10475.
https://digitalcommons.njit.edu/fac_pubs/10475
