2021

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Borchert, F., Mock, A., Tomczak, A., Hügel, J., Alkarkoukly, S., Knurr, A., Volckmar, A.-L., Stenzinger, A., Schirmacher, P., Debus, J., Jäger, D., Longerich, T., Fröhling, S., Eils, R., Bougatf, N., Sax, U., Schapranow, M.-P.: Knowledge bases and software support for variant interpretation in precision oncology. Briefings in Bioinformatics. (2021).
[ Abstract ] [ URL ]
 
Precision oncology is a rapidly evolving interdisciplinary medical specialty. Comprehensive cancer panels are becoming increasingly available at pathology departments worldwide, creating the urgent need for scalable cancer variant annotation and molecularly informed treatment recommendations. A wealth of mainly academia-driven knowledge bases calls for software tools supporting the multi-step diagnostic process. We derive a comprehensive list of knowledge bases relevant for variant interpretation by a review of existing literature followed by a survey among medical experts from university hospitals in Germany. In addition, we review cancer variant interpretation tools, which integrate multiple knowledge bases. We categorize the knowledge bases along the diagnostic process in precision oncology and analyze programmatic access options as well as the integration of knowledge bases into software tools. The most commonly used knowledge bases provide good programmatic access options and have been integrated into a range of software tools. For the wider set of knowledge bases, access options vary across different parts of the diagnostic process. Programmatic access is limited for information regarding clinical classifications of variants and for therapy recommendations. The main issue for databases used for biological classification of pathogenic variants and pathway context information is the lack of standardized interfaces. There is no single cancer variant interpretation tool that integrates all identified knowledge bases. Specialized tools are available and need to be further developed for different steps in the diagnostic process.

2020

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Borchert, F., Lohr, C., Modersohn, L., Langer, T., Follmann, M., Sachs, J.P., Hahn, U., Schapranow, M.-P.: GGPONC: A Corpus of German Medical Text with Rich Metadata Based on Clinical Practice Guidelines. Proceedings of the 11th International Workshop on Health Text Mining and Information Analysis. bll. 38–48. Association for Computational Linguistics, Online (2020).
[ Abstract ] [ URL ]
 
The lack of publicly accessible text corpora is a major obstacle for progress in natural language processing. For medical applications, unfortunately, all language communities other than English are low-resourced. In this work, we present GGPONC (German Guideline Program in Oncology NLP Corpus), a freely distributable German language corpus based on clinical practice guidelines for oncology. This corpus is one of the largest ever built from German medical documents. Unlike clinical documents, clinical guidelines do not contain any patient-related information and can therefore be used without data protection restrictions. Moreover, GGPONC is the first corpus for the German language covering diverse conditions in a large medical subfield and provides a variety of metadata, such as literature references and evidence levels. By applying and evaluating existing medical information extraction pipelines for German text, we are able to draw comparisons for the use of medical language to other corpora, medical and non-medical ones.

1.
Borchert, F., Lohr, C., Modersohn, L., Hahn, U., Langer, T., Wenzel, G., Follmann, M., Schapranow, M.-P.: "Herr Doktor, verstehen Sie mich?“: Wie lernende Systeme helfen medizinische Fachsprache zu verstehen und welche Rolle klinische Leitlinien dabei spielen. gesundhyte.de: Das Magazin für Digitale Gesundheit in Deutschland. 13, 19–22 (2020).