Dataset Information

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.

ABSTRACT: The Human Phenotype Ontology (HPO) is a dictionary of >15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize phenotypic analysis. Over the last decade, the HPO has been used to accelerate the implementation of precision medicine into clinical practice. In addition, recent research in representation learning, specifically in graph embedding, has led to notable progress in automated prediction via learned features. Here, we present a novel approach to phenotype representation by incorporating phenotypic frequencies based on 53 million full-text health care notes from >1.5 million individuals. We demonstrate the efficacy of our proposed phenotype embedding technique by comparing our work to existing phenotypic similarity-measuring methods. Using phenotype frequencies in our embedding technique, we are able to identify phenotypic similarities that surpass current computational models. Furthermore, our embedding technique exhibits a high degree of agreement with domain experts' judgment. By transforming complex and multidimensional phenotypes from the HPO format into vectors, our proposed method enables efficient representation of these phenotypes for downstream tasks that require deep phenotyping. This is demonstrated in a patient similarity analysis and can further be applied to disease trajectory and risk prediction.

SUBMITTER: Daniali M

PROVIDER: S-EPMC10782859 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.

Daniali Maryam M Galer Peter D PD Lewis-Smith David D Parthasarathy Shridhar S Kim Edward E Salvucci Dario D DD Miller Jeffrey M JM Haag Scott S Helbig Ingo I

Artificial intelligence in medicine 20230228

The Human Phenotype Ontology (HPO) is a dictionary of >15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize phenotypic analysis. Over the last decade, the HPO has been used to accelerate the implementation of precision medicine into clinical practice. In addition, recent research in representation learning, specifically in graph embedding, has led to notable progress in automated prediction via learned features. Here, we present a novel approach to pheno ...[more]

PMID: 37100502

Similar Datasets

Project description:BackgroundThe secondary use of structured electronic medical record (sEMR) data has become a challenge due to the diversity, sparsity, and high dimensionality of the data representation. Constructing an effective representation for sEMR data is becoming more and more crucial for subsequent data applications.ObjectiveWe aimed to apply the embedding technique used in the natural language processing domain for the sEMR data representation and to explore the feasibility and superiority of the embedding-based feature and patient representations in clinical application.MethodsThe entire training corpus consisted of records of 104,752 hospitalized patients with 13,757 medical concepts of disease diagnoses, physical examinations and procedures, laboratory tests, medications, etc. Each medical concept was embedded into a 200-dimensional real number vector using the Skip-gram algorithm with some adaptive changes from shuffling the medical concepts in a record 20 times. The average of vectors for all medical concepts in a patient record represented the patient. For embedding-based feature representation evaluation, we used the cosine similarities among the medical concept vectors to capture the latent clinical associations among the medical concepts. We further conducted a clustering analysis on stroke patients to evaluate and compare the embedding-based patient representations. The Hopkins statistic, Silhouette index (SI), and Davies-Bouldin index were used for the unsupervised evaluation, and the precision, recall, and F1 score were used for the supervised evaluation.ResultsThe dimension of patient representation was reduced from 13,757 to 200 using the embedding-based representation. The average cosine similarity of the selected disease (subarachnoid hemorrhage) and its 15 clinically relevant medical concepts was 0.973. Stroke patients were clustered into two clusters with the highest SI (0.852). Clustering analyses conducted on patients with the embedding representations showed higher applicability (Hopkins statistic 0.931), higher aggregation (SI 0.862), and lower dispersion (Davies-Bouldin index 0.551) than those conducted on patients with reference representation methods. The clustering solutions for patients with the embedding-based representation achieved the highest F1 scores of 0.944 and 0.717 for two clusters.ConclusionsThe feature-level embedding-based representations can reflect the potential clinical associations among medical concepts effectively. The patient-level embedding-based representation is easy to use as continuous input to standard machine learning algorithms and can bring performance improvements. It is expected that the embedding-based representation will be helpful in a wide range of secondary uses of sEMR data.

Project description:BACKGROUND:The ability to confidently predict health outcomes from gene expression would catalyze a revolution in molecular diagnostics. Yet, the goal of developing actionable, robust, and reproducible predictive signatures of phenotypes such as clinical outcome has not been attained in almost any disease area. Here, we report a comprehensive analysis spanning prediction tasks from ulcerative colitis, atopic dermatitis, diabetes, to many cancer subtypes for a total of 24 binary and multiclass prediction problems and 26 survival analysis tasks. We systematically investigate the influence of gene subsets, normalization methods and prediction algorithms. Crucially, we also explore the novel use of deep representation learning methods on large transcriptomics compendia, such as GTEx and TCGA, to boost the performance of state-of-the-art methods. The resources and findings in this work should serve as both an up-to-date reference on attainable performance, and as a benchmarking resource for further research. RESULTS:Approaches that combine large numbers of genes outperformed single gene methods consistently and with a significant margin, but neither unsupervised nor semi-supervised representation learning techniques yielded consistent improvements in out-of-sample performance across datasets. Our findings suggest that using l2-regularized regression methods applied to centered log-ratio transformed transcript abundances provide the best predictive analyses overall. CONCLUSIONS:Transcriptomics-based phenotype prediction benefits from proper normalization techniques and state-of-the-art regularized regression approaches. In our view, breakthrough performance is likely contingent on factors which are independent of normalization and general modeling techniques; these factors might include reduction of systematic errors in sequencing data, incorporation of other data types such as single-cell sequencing and proteomics, and improved use of prior knowledge.

Dataset Information

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.

Publications

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets