Biology subjects

Manda, P.

Publications and source records attributed to Manda, P..

4 recordsLinked to original sources

bioRxiv2018

Taking a Dive: Experiments in Deep Learning for Automatic Ontology-based Annotation of Scientific Literature

I.Text mining approaches for automated ontology-based curation of biological and biomedical literature have largely focused on syntactic and lexical analysis along with machine learning. Recent advances in deep learning have shown increased accuracy for textual data annotation. However, the application of deep learning for ontology-based curation is a relatively new area and prior work has focused on a limited set of models.\n\nHere, we introduce a new deep learning model/architecture based on combining multiple Gated Recurrent Units (GRU) with a character+word based input. We use data from five ontologies in the CRAFT corpus as a Gold Standard to evaluate our models performance. We also compare our model to seven models from prior work. We use four metrics - Precision, Recall, F1 score, and a semantic similarity metric (Jaccard similarity) to compare our models output to the Gold Standard. Our model resulted in a 84% Precision, 84% Recall, 83% F1, and a 84% Jaccard similarity. Results show that our GRU-based model outperforms prior models across all five ontologies. We also observed that character+word inputs result in a higher performance across models as compared to word only inputs.\n\nThese findings indicate that deep learning algorithms are a promising avenue to be explored for automated ontology-based curation of data. This study also serves as a formal comparison and guideline for building and selecting deep learning models and architectures for ontology-based curation.

bioinformatics↗

bioRxiv2018

An analysis and comparison of the statistical sensitivity of semantic similarity metrics

1Semantic similarity has been used for comparing genes, proteins, phenotypes, diseases, etc. for various biological applications. The rise of ontology-based data representation in biology has also led to the development of several semantic similarity metrics that use different statistics to estimate similarity.\n\nAlthough semantic similarity has become a crucial computational tool in several applications, there has not been a formal evaluation of the statistical sensitivity of these metrics and their ability to recognize similarity between distantly related biological objects.\n\nHere, we present a statistical sensitivity comparison of five semantic similarity metrics (Jaccard, Resnik, Lin, Jiang& Conrath, and Hybrid Relative Specificity Similarity) representing three different kinds of metrics (Edge based, Node based, and Hybrid) and explore key parameter choices that can impact sensitivity. Furthermore, we compare four methods of aggregating individual annotation similarities to estimate similarity between two biological objects - All Pairs, Best Pairs, Best Pairs Symmetric, and Groupwise.\n\nTo evaluate sensitivity in a controlled fashion, we explore two different models for simulating data with varying levels of similarity and compare to the noise distribution using resampling. Source data are derived from the Phenoscape Knowledgebase of evolutionary phenotypes.\n\nOur results indicate that the choice of similarity metric along with different parameter choices can substantially affect sensitivity. Among the five metrics evaluated, we find that Resnik similarity shows the greatest sensitivity to weak semantic similarity. Among the ways to combine pairwise statistics, the Groupwise approach provides the greatest discrimination among values above the sensitivity threshold, while the Best Pairs statistic can be parametrically tuned to provide the highest sensitivity.\n\nOur findings serve as a guideline for an appropriate choice and parameterization of semantic similarity metrics, and point to the need for improved reporting of the statistical significance of semantic similarity matches in cases where weak similarity is of interest

bioinformatics↗

bioRxiv2018

Annotation of phenotypes using ontologies: a Gold Standard for the training and evaluation of natural language processing systems

Natural language descriptions of organismal phenotypes - a principal object of study in biology, are abundant in biological literature. Expressing these phenotypes as logical statements using formal ontologies would enable large-scale analysis on phenotypic information from diverse systems. However, considerable human effort is required to make the semantics of phenotype descriptions amenable to machine reasoning by (a) recognizing appropriate on-tological terms for entities in text and (b) stringing these terms into logical statements. Most existing Natural Language Processing tools stop at entity recognition, leaving a need for tools that can assist with both aspects of the task. The recently described Semantic CharaParser aims to meet this need. We describe the first expert-curated Gold Standard corpus for ontology-based annotation of phenotypes from the systematics literature. We use it to evaluate Semantic CharaParsers annotations and explore differences in performance between humans and machine. We use four annotation accuracy metrics that can account for both semantically identical and similar matches. We found that machine-human consistency was significantly lower than inter-curator (human-human) consistency. Surprisingly, allowing curators access to external information that was not available to Semantic CharaParser did not significantly increase the similarity of their annotations to the Gold Standard nor have a significant effect on inter-curator consistency. We found that the similarity of machine annotations to the Gold Standard increased after new ontology terms relevant to the input text had been added. Evaluation by the original authors of the character descriptions indicated that the Gold Standard annotations came closer to representing their intended meaning than did either the curator or machine annotations. These findings point toward ways to better design of software to augment human curators, and the Gold Standard corpus will allow training and assessment of new tools to improve phenotype annotation accuracy at scale.

evolutionary biology↗

bioRxiv2016

Measuring the importance of annotation granularity to the detection of semantic similarity between phenotype profiles

In phenotype annotations curated from the biological and medical literature, considerable human effort must be invested to select ontological classes that capture the expressivity of the original natural language descriptions, and finer annotation granularity can also entail higher computational costs for particular reasoning tasks. Do coarse annotations suffice for certain applications? Here, we measure how annotation granularity affects the statistical behavior of semantic similarity metrics. We use a randomized dataset of phenotype profiles drawn from 57,051 taxon-phenotype annotations in the Phenoscape Knowledgebase. We compared query profiles having variable proportions of matching phenotypes to subject database profiles using both pairwise and groupwise Jaccard (edge-based) and Resnik (node-based) semantic similarity metrics, and compared statistical performance for three different levels of annotation granularity: entities alone, entities plus attributes, and entities plus qualities (with implicit attributes). All four metrics examined showed more extreme values than expected by chance when approximately half the annotations matched between the query and subject profiles, with a more sudden decline for pairwise statistics and a more gradual one for the groupwise statistics. Annotation granularity had a negligible effect on the position of the threshold at which matches could be discriminated from noise. These results suggest that coarse annotations of phenotypes, at the level of entities with or without attributes, may be sufficient to identify phenotype profiles with statistically significant semantic similarity.

bioinformatics↗