TY - JOUR A1 - Freitas da Cruz, Harry A1 - Pfahringer, Boris A1 - Martensen, Tom A1 - Schneider, Frederic A1 - Meyer, Alexander A1 - Böttinger, Erwin A1 - Schapranow, Matthieu-Patrick T1 - Using interpretability approaches to update "black-box" clinical prediction models BT - an external validation study in nephrology JF - Artificial intelligence in medicine : AIM N2 - 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. KW - Clinical predictive modeling KW - Nephrology KW - Validation KW - Interpretability KW - methods Y1 - 2021 U6 - https://doi.org/10.1016/j.artmed.2020.101982 SN - 0933-3657 SN - 1873-2860 VL - 111 PB - Elsevier CY - Amsterdam ER - TY - JOUR A1 - Borchert, Florian A1 - Mock, Andreas A1 - Tomczak, Aurelie A1 - Hügel, Jonas A1 - Alkarkoukly, Samer A1 - Knurr, Alexander A1 - Volckmar, Anna-Lena A1 - Stenzinger, Albrecht A1 - Schirmacher, Peter A1 - Debus, Jürgen A1 - Jäger, Dirk A1 - Longerich, Thomas A1 - Fröhling, Stefan A1 - Eils, Roland A1 - Bougatf, Nina A1 - Sax, Ulrich A1 - Schapranow, Matthieu-Patrick T1 - Knowledge bases and software support for variant interpretation in precision oncology JF - Briefings in bioinformatics N2 - 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. KW - HiGHmed KW - personalized medicine KW - molecular tumor board KW - data integration KW - cancer therapy Y1 - 2021 U6 - https://doi.org/10.1093/bib/bbab134 SN - 1467-5463 SN - 1477-4054 VL - 22 IS - 6 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Fandiño, Jorge A1 - Laferriere, Francois A1 - Romero, Javier A1 - Schaub, Torsten H. A1 - Son, Tran Cao T1 - Planning with incomplete information in quantified answer set programming JF - Theory and practice of logic programming N2 - We present a general approach to planning with incomplete information in Answer Set Programming (ASP). More precisely, we consider the problems of conformant and conditional planning with sensing actions and assumptions. We represent planning problems using a simple formalism where logic programs describe the transition function between states, the initial states and the goal states. For solving planning problems, we use Quantified Answer Set Programming (QASP), an extension of ASP with existential and universal quantifiers over atoms that is analogous to Quantified Boolean Formulas (QBFs). We define the language of quantified logic programs and use it to represent the solutions different variants of conformant and conditional planning. On the practical side, we present a translation-based QASP solver that converts quantified logic programs into QBFs and then executes a QBF solver, and we evaluate experimentally the approach on conformant and conditional planning benchmarks. KW - answer set programming KW - planning KW - quantified logics Y1 - 2021 U6 - https://doi.org/10.1017/S1471068421000259 SN - 1471-0684 SN - 1475-3081 VL - 21 IS - 5 SP - 663 EP - 679 PB - Cambridge University Press CY - Cambridge ER -