@article{FreitasdaCruzPfahringerMartensenetal.2021, author = {Freitas da Cruz, Harry and Pfahringer, Boris and Martensen, Tom and Schneider, Frederic and Meyer, Alexander and B{\"o}ttinger, Erwin and Schapranow, Matthieu-Patrick}, title = {Using interpretability approaches to update "black-box" clinical prediction models}, series = {Artificial intelligence in medicine : AIM}, volume = {111}, journal = {Artificial intelligence in medicine : AIM}, publisher = {Elsevier}, address = {Amsterdam}, issn = {0933-3657}, doi = {10.1016/j.artmed.2020.101982}, pages = {13}, year = {2021}, abstract = {Despite advances in machine learning-based clinical prediction models, only few of such models are actually deployed in clinical contexts. Among other reasons, this is due to a lack of validation studies. In this paper, we present and discuss the validation results of a machine learning model for the prediction of acute kidney injury in cardiac surgery patients initially developed on the MIMIC-III dataset when applied to an external cohort of an American research hospital. To help account for the performance differences observed, we utilized interpretability methods based on feature importance, which allowed experts to scrutinize model behavior both at the global and local level, making it possible to gain further insights into why it did not behave as expected on the validation cohort. The knowledge gleaned upon derivation can be potentially useful to assist model update during validation for more generalizable and simpler models. We argue that interpretability methods should be considered by practitioners as a further tool to help explain performance differences and inform model update in validation studies.}, language = {en} } @article{BorchertMockTomczaketal.2021, author = {Borchert, Florian and Mock, Andreas and Tomczak, Aurelie and H{\"u}gel, Jonas and Alkarkoukly, Samer and Knurr, Alexander and Volckmar, Anna-Lena and Stenzinger, Albrecht and Schirmacher, Peter and Debus, J{\"u}rgen and J{\"a}ger, Dirk and Longerich, Thomas and Fr{\"o}hling, Stefan and Eils, Roland and Bougatf, Nina and Sax, Ulrich and Schapranow, Matthieu-Patrick}, title = {Correction to: Knowledge bases and software support for variant interpretation in precision oncology}, series = {Briefings in bioinformatics}, volume = {22}, journal = {Briefings in bioinformatics}, number = {6}, publisher = {Oxford Univ. Press}, address = {Oxford}, issn = {1467-5463}, doi = {10.1093/bib/bbab246}, pages = {1}, year = {2021}, language = {en} } @article{BorchertMockTomczaketal.2021, author = {Borchert, Florian and Mock, Andreas and Tomczak, Aurelie and H{\"u}gel, Jonas and Alkarkoukly, Samer and Knurr, Alexander and Volckmar, Anna-Lena and Stenzinger, Albrecht and Schirmacher, Peter and Debus, J{\"u}rgen and J{\"a}ger, Dirk and Longerich, Thomas and Fr{\"o}hling, Stefan and Eils, Roland and Bougatf, Nina and Sax, Ulrich and Schapranow, Matthieu-Patrick}, title = {Knowledge bases and software support for variant interpretation in precision oncology}, series = {Briefings in bioinformatics}, volume = {22}, journal = {Briefings in bioinformatics}, number = {6}, publisher = {Oxford Univ. Press}, address = {Oxford}, issn = {1467-5463}, doi = {10.1093/bib/bbab134}, pages = {17}, year = {2021}, abstract = {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.}, language = {en} } @article{KrausMathewStephenSchapranow2021, author = {Kraus, Sara Milena and Mathew-Stephen, Mariet and Schapranow, Matthieu-Patrick}, title = {Eatomics}, series = {Journal of proteome research}, volume = {20}, journal = {Journal of proteome research}, number = {1}, publisher = {American Chemical Society}, address = {Washington}, issn = {1535-3893}, doi = {10.1021/acs.jproteome.0c00398}, pages = {1070 -- 1078}, year = {2021}, abstract = {Quantitative proteomics data are becoming increasingly more available, and as a consequence are being analyzed and interpreted by a larger group of users. However, many of these users have less programming experience. Furthermore, experimental designs and setups are getting more complicated, especially when tissue biopsies are analyzed. Luckily, the proteomics community has already established some best practices on how to conduct quality control, differential abundance analysis and enrichment analysis. However, an easy-to-use application that wraps together all steps for the exploration and flexible analysis of quantitative proteomics data is not yet available. For Eatomics, we utilize the R Shiny framework to implement carefully chosen parts of established analysis workflows to (i) make them accessible in a user-friendly way, (ii) add a multitude of interactive exploration possibilities, and (iii) develop a unique experimental design setup module, which interactively translates a given research hypothesis into a differential abundance and enrichment analysis formula. In this, we aim to fulfill the needs of a growing group of inexperienced quantitative proteomics data analysts. Eatomics may be tested with demo data directly online via https://we.analyzegenomes.com/now/eatomics/or with the user's own data by installation from the Github repository at https://github.com/Millchmaedchen/Eatomics.}, language = {en} }