The Rat Genome Database (RGD, http://rgd.mcw.edu) provides the most comprehensive data repository and informatics platform related to the laboratory rat, one of the most important model organisms for disease studies. RGD maintains and updates datasets for genomic elements such as genes, transcripts and increasingly in recent years, sequence variations, as well as map positions for multiple assemblies and sequence information. Functional annotations for genomic elements are curated from published literature, submitted by researchers and integrated from other public resources. Complementing the genomic data catalogs are those associated with phenotypes and disease, including strains, QTL and experimental phenotype measurements across hundreds of strains. Data are submitted by researchers, acquired through bulk data pipelines or curated from published literature. Innovative software tools provide users with an integrated platform to query, mine, display and analyze valuable genomic and phenomic datasets for discovery and enhancement of their own research. This update highlights recent developments that reflect an increasing focus on: (i) genomic variation, (ii) phenotypes and diseases, (iii) data related to the environment and experimental conditions and (iv) datasets and software tools that allow the user to explore and analyze the interactions among these and their impact on disease.

Introduction This work describes the MADE 1.0 corpus and provides an overview of the MADE 2018 challenge for Extracting Medication, Indication and Adverse Drug Events from Electronic Health Record Notes. Objective The goal of MADE is to provide a set of common evaluation tasks to assess the state of the art for NLP systems applied to electronic health records (EHRs) supporting drug safety surveillance and pharmacovigilance. We also provide benchmarks on the MADE dataset using the system submissions received in MADE 2018 challenge. Methods The MADE 1.0 challenge has released an expert-annotated cohort of medication and adverse drug event information, comprised of 1,089 fully de-identified longitudinal EHR notes from 21 randomly selected cancer patients at the University of Massachusetts Memorial Hospital. Using this cohort as a benchmark, the MADE 1.0 challenge designed three shared NLP tasks. The named entity recognition (NER) task identifies medications and their attributes (dosage, route, duration, and frequency), indications, adverse drug events (ADEs) and severity. The relation identification (RI) task identifies relations between the named entities: medication-indication, medication-ADE, and attribute relations. The third shared task (NER-RI) evaluates NLP models that perform the NER and RI tasks jointly. Eleven teams from four countries participated in at least one of the three shared tasks and forty-one system submissions were received in total. Results The best systems f-scores for NER, RI, and NER-RI are 0.82, 0.86, and 0.61 respectively. Ensemble classifiers using the team submissions improved the performance further, with an f-score of 0.85, 0.87 and 0.66 for the three tasks respectively Conclusion MADE results show that recent progress in NLP has led to remarkable improvements in NER and RI tasks for the clinical domain. However, there is still some room for improvement, particularly in the NER-RI task.

Background The bidirectional encoder representations from transformers (BERT) model has achieved great success in many natural language processing (NLP) tasks, such as named entity recognition and question answering. However, little prior work has explored this model to be used for an important task in the biomedical and clinical domains, namely entity normalization. Objective We aim to investigate the effectiveness of BERT-based models for biomedical or clinical entity normalization. In addition, our second objective is to investigate whether the domains of training data influence the performances of BERT-based models as well as the degree of influence. Methods Our data was comprised of 1.5 million unlabeled electronic health record (EHR) notes. We first fine-tuned BioBERT on this large collection of unlabeled EHR notes. This generated our BERT-based model trained using 1.5 million electronic health record notes (EhrBERT). We then further fine-tuned EhrBERT, BioBERT, and BERT on three annotated corpora for biomedical and clinical entity normalization: the Medication, Indication, and Adverse Drug Events (MADE) 1.0 corpus, the National Center for Biotechnology Information (NCBI) disease corpus, and the Chemical-Disease Relations (CDR) corpus. We compared our models with two state-of-the-art normalization systems, namely MetaMap and disease name normalization (DNorm). Results EhrBERT achieved 40.95% F1 in the MADE 1.0 corpus for mapping named entities to the Medical Dictionary for Regulatory Activities and the Systematized Nomenclature of Medicine—Clinical Terms (SNOMED-CT), which have about 380,000 terms. In this corpus, EhrBERT outperformed MetaMap by 2.36% in F1. For the NCBI disease corpus and CDR corpus, EhrBERT also outperformed DNorm by improving the F1 scores from 88.37% and 89.92% to 90.35% and 93.82%, respectively. Compared with BioBERT and BERT, EhrBERT outperformed them on the MADE 1.0 corpus and the CDR corpus. Conclusions Our work shows that BERT-based models have achieved state-of-the-art performance for biomedical and clinical entity normalization. BERT-based models can be readily fine-tuned to normalize any kind of named entities.

Background Improper dosing of medications such as insulin can cause hypoglycemic episodes, which may lead to severe morbidity or even death. Although secure messaging was designed for exchanging nonurgent messages, patients sometimes report hypoglycemia events through secure messaging. Detecting these patient-reported adverse events may help alert clinical teams and enable early corrective actions to improve patient safety. Objective We aimed to develop a natural language processing system, called HypoDetect (Hypoglycemia Detector), to automatically identify hypoglycemia incidents reported in patients’ secure messages. Methods An expert in public health annotated 3000 secure message threads between patients with diabetes and US Department of Veterans Affairs clinical teams as containing patient-reported hypoglycemia incidents or not. A physician independently annotated 100 threads randomly selected from this dataset to determine interannotator agreement. We used this dataset to develop and evaluate HypoDetect. HypoDetect incorporates 3 machine learning algorithms widely used for text classification: linear support vector machines, random forest, and logistic regression. We explored different learning features, including new knowledge-driven features. Because only 114 (3.80%) messages were annotated as positive, we investigated cost-sensitive learning and oversampling methods to mitigate the challenge of imbalanced data. Results The interannotator agreement was Cohen kappa=.976. Using cross-validation, logistic regression with cost-sensitive learning achieved the best performance (area under the receiver operating characteristic curve=0.954, sensitivity=0.693, specificity 0.974, F1 score=0.590). Cost-sensitive learning and the ensembled synthetic minority oversampling technique improved the sensitivity of the baseline systems substantially (by 0.123 to 0.728 absolute gains). Our results show that a variety of features contributed to the best performance of HypoDetect. Conclusions Despite the challenge of data imbalance, HypoDetect achieved promising results for the task of detecting hypoglycemia incidents from secure messages. The system has a great potential to facilitate early detection and treatment of hypoglycemia.