Dataset Information

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.

ABSTRACT: While abnormalities related to carbohydrates (glycans) are frequent for patients with rare and undiagnosed diseases as well as in many common diseases, these glycan-related phenotypes (glycophenotypes) are not well represented in knowledge bases (KBs). If glycan-related diseases were more robustly represented and curated with glycophenotypes, these could be used for molecular phenotyping to help to realize the goals of precision medicine. Diagnosis of rare diseases by computational cross-species comparison of genotype-phenotype data has been facilitated by leveraging ontological representations of clinical phenotypes, using Human Phenotype Ontology (HPO), and model organism ontologies such as Mammalian Phenotype Ontology (MP) in the context of the Monarch Initiative. In this article, we discuss the importance and complexity of glycobiology and review the structure of glycan-related content from existing KBs and biological ontologies. We show how semantically structuring knowledge about the annotation of glycophenotypes could enhance disease diagnosis, and propose a solution to integrate glycophenotypes and related diseases into the Unified Phenotype Ontology (uPheno), HPO, Monarch and other KBs. We encourage the community to practice good identifier hygiene for glycans in support of semantic analysis, and clinicians to add glycomics to their diagnostic analyses of rare diseases.

SUBMITTER: Gourdine JF

PROVIDER: S-EPMC6859258 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.

Gourdine Jean-Philippe F JF Brush Matthew H MH Vasilevsky Nicole A NA Shefchek Kent K Köhler Sebastian S Matentzoglu Nicolas N Munoz-Torres Monica C MC McMurry Julie A JA Zhang Xingmin Aaron XA Robinson Peter N PN Haendel Melissa A MA

Database : the journal of biological databases and curation 20190101

While abnormalities related to carbohydrates (glycans) are frequent for patients with rare and undiagnosed diseases as well as in many common diseases, these glycan-related phenotypes (glycophenotypes) are not well represented in knowledge bases (KBs). If glycan-related diseases were more robustly represented and curated with glycophenotypes, these could be used for molecular phenotyping to help to realize the goals of precision medicine. Diagnosis of rare diseases by computational cross-species ...[more]

PMID: 31735951

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Project description:OBJECTIVE:Phenotyping algorithms can efficiently and accurately identify patients with a specific disease phenotype and construct electronic health records (EHR)-based cohorts for subsequent clinical or genomic studies. Previous studies have introduced unsupervised EHR-based feature selection methods that yielded algorithms with high accuracy. However, those selection methods still require expert intervention to tweak the parameter settings according to the EHR data distribution for each phenotype. To further accelerate the development of phenotyping algorithms, we propose a fully automated and robust unsupervised feature selection method that leverages only publicly available medical knowledge sources, instead of EHR data. METHODS:SEmantics-Driven Feature Extraction (SEDFE) collects medical concepts from online knowledge sources as candidate features and gives them vector-form distributional semantic representations derived with neural word embedding and the Unified Medical Language System Metathesaurus. A number of features that are semantically closest and that sufficiently characterize the target phenotype are determined by a linear decomposition criterion and are selected for the final classification algorithm. RESULTS:SEDFE was compared with the EHR-based SAFE algorithm and domain experts on feature selection for the classification of five phenotypes including coronary artery disease, rheumatoid arthritis, Crohn's disease, ulcerative colitis, and pediatric pulmonary arterial hypertension using both supervised and unsupervised approaches. Algorithms yielded by SEDFE achieved comparable accuracy to those yielded by SAFE and expert-curated features. SEDFE is also robust to the input semantic vectors. CONCLUSION:SEDFE attains satisfying performance in unsupervised feature selection for EHR phenotyping. Both fully automated and EHR-independent, this method promises efficiency and accuracy in developing algorithms for high-throughput phenotyping.

Project description:BackgroundSemantic Category Disambiguation (SCD) is the task of assigning the appropriate semantic category to given spans of text from a fixed set of candidate categories, for example Protein to "Fibrin". SCD is relevant to Natural Language Processing tasks such as Named Entity Recognition, coreference resolution and coordination resolution. In this work, we study machine learning-based SCD methods using large lexical resources and approximate string matching, aiming to generalise these methods with regard to domains, lexical resources and the composition of data sets. We specifically consider the applicability of SCD for the purposes of supporting human annotators and acting as a pipeline component for other Natural Language Processing systems.ResultsWhile previous research has mostly cast SCD purely as a classification task, we consider a task setting that allows for multiple semantic categories to be suggested, aiming to minimise the number of suggestions while maintaining high recall. We argue that this setting reflects aspects which are essential for both a pipeline component and when supporting human annotators. We introduce an SCD method based on a recently introduced machine learning-based system and evaluate it on 15 corpora covering biomedical, clinical and newswire texts and ranging in the number of semantic categories from 2 to 91. With appropriate settings, our system maintains an average recall of 99% while reducing the number of candidate semantic categories on average by 65% over all data sets.ConclusionsMachine learning-based SCD using large lexical resources and approximate string matching is sensitive to the selection and granularity of lexical resources, but generalises well to a wide range of text domains and data sets given appropriate resources and parameter settings. By substantially reducing the number of candidate categories while only very rarely excluding the correct one, our method is shown to be applicable to manual annotation support tasks and use as a high-recall component in text processing pipelines. The introduced system and all related resources are freely available for research purposes at: https://github.com/ninjin/simsem.

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Dataset Information

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.

Publications

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.

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