Dietrich Rebholz-Schuhmann

Md. Rezaul Karim, Tanhim Islam, Oya Beyan et al.

Artificial intelligence (AI) systems utilizing deep neural networks (DNNs) and machine learning (ML) algorithms are widely used for solving important problems in bioinformatics, biomedical informatics, and precision medicine. However, complex DNNs or ML models, which are often perceived as opaque and black-box, can make it difficult to understand the reasoning behind their decisions. This lack of transparency can be a challenge for both end-users and decision-makers, as well as AI developers. Additionally, in sensitive areas like healthcare, explainability and accountability are not only desirable but also legally required for AI systems that can have a significant impact on human lives. Fairness is another growing concern, as algorithmic decisions should not show bias or discrimination towards certain groups or individuals based on sensitive attributes. Explainable artificial intelligence (XAI) aims to overcome the opaqueness of black-box models and provide transparency in how AI systems make decisions. Interpretable ML models can explain how they make predictions and the factors that influence their outcomes. However, most state-of-the-art interpretable ML methods are domain-agnostic and evolved from fields like computer vision, automated reasoning, or statistics, making direct application to bioinformatics problems challenging without customization and domain-specific adaptation. In this paper, we discuss the importance of explainability in the context of bioinformatics, provide an overview of model-specific and model-agnostic interpretable ML methods and tools, and outline their potential caveats and drawbacks. Besides, we discuss how to customize existing interpretable ML methods for bioinformatics problems. Nevertheless, we demonstrate how XAI methods can improve transparency through case studies in bioimaging, cancer genomics, and text mining.

Md. Rezaul Karim, Lina Molinas Comet, Md Shajalal et al.

Domain experts often rely on most recent knowledge for apprehending and disseminating specific biological processes that help them design strategies for developing prevention and therapeutic decision-making in various disease scenarios. A challenging scenarios for artificial intelligence (AI) is using biomedical data (e.g., texts, imaging, omics, and clinical) to provide diagnosis and treatment recommendations for cancerous conditions.~Data and knowledge about biomedical entities like cancer, drugs, genes, proteins, and their mechanism is spread across structured (knowledge bases (KBs)) and unstructured (e.g., scientific articles) sources. A large-scale knowledge graph (KG) can be constructed by integrating and extracting facts about semantically interrelated entities and relations. Such a KG not only allows exploration and question answering (QA) but also enables domain experts to deduce new knowledge. However, exploring and querying large-scale KGs is tedious for non-domain users due to their lack of understanding of the data assets and semantic technologies. In this paper, we develop a domain KG to leverage cancer-specific biomarker discovery and interactive QA. For this, we constructed a domain ontology called OncoNet Ontology (ONO), which enables semantic reasoning for validating gene-disease (different types of cancer) relations. The KG is further enriched by harmonizing the ONO, metadata, controlled vocabularies, and biomedical concepts from scientific articles by employing BioBERT- and SciBERT-based information extractors. Further, since the biomedical domain is evolving, where new findings often replace old ones, without having access to up-to-date scientific findings, there is a high chance an AI system exhibits concept drift while providing diagnosis and treatment. Therefore, we fine-tune the KG using large language models (LLMs) based on more recent articles and KBs.

Md. Rezaul Karim, Lina Molinas Comet, Oya Beyan et al.

Structured and unstructured data and facts about drugs, genes, protein, viruses, and their mechanism are spread across a huge number of scientific articles. These articles are a large-scale knowledge source and can have a huge impact on disseminating knowledge about the mechanisms of certain biological processes. A domain-specific knowledge graph~(KG) is an explicit conceptualization of a specific subject-matter domain represented w.r.t semantically interrelated entities and relations. A KG can be constructed by integrating such facts and data and be used for data integration, exploration, and federated queries. However, exploration and querying large-scale KGs is tedious for certain groups of users due to a lack of knowledge about underlying data assets or semantic technologies. Such a KG will not only allow deducing new knowledge and question answering(QA) but also allows domain experts to explore. Since cross-disciplinary explanations are important for accurate diagnosis, it is important to query the KG to provide interactive explanations about learned biomarkers. Inspired by these, we construct a domain-specific KG, particularly for cancer-specific biomarker discovery. The KG is constructed by integrating cancer-related knowledge and facts from multiple sources. First, we construct a domain-specific ontology, which we call OncoNet Ontology (ONO). The ONO ontology is developed to enable semantic reasoning for verification of the predictions for relations between diseases and genes. The KG is then developed and enriched by harmonizing the ONO, additional metadata schemas, ontologies, controlled vocabularies, and additional concepts from external sources using a BERT-based information extraction method. BioBERT and SciBERT are finetuned with the selected articles crawled from PubMed. We listed down some queries and some examples of QA and deducing knowledge based on the KG.

Md. Rezaul Karim, Till Döhmen, Dietrich Rebholz-Schuhmann et al.

Amid the coronavirus disease(COVID-19) pandemic, humanity experiences a rapid increase in infection numbers across the world. Challenge hospitals are faced with, in the fight against the virus, is the effective screening of incoming patients. One methodology is the assessment of chest radiography(CXR) images, which usually requires expert radiologist's knowledge. In this paper, we propose an explainable deep neural networks(DNN)-based method for automatic detection of COVID-19 symptoms from CXR images, which we call DeepCOVIDExplainer. We used 15,959 CXR images of 15,854 patients, covering normal, pneumonia, and COVID-19 cases. CXR images are first comprehensively preprocessed, before being augmented and classified with a neural ensemble method, followed by highlighting class-discriminating regions using gradient-guided class activation maps(Grad-CAM++) and layer-wise relevance propagation(LRP). Further, we provide human-interpretable explanations of the predictions. Evaluation results based on hold-out data show that our approach can identify COVID-19 confidently with a positive predictive value(PPV) of 91.6%, 92.45%, and 96.12%; precision, recall, and F1 score of 94.6%, 94.3%, and 94.6%, respectively for normal, pneumonia, and COVID-19 cases, respectively, making it comparable or improved results over recent approaches. We hope that our findings will be a useful contribution to the fight against COVID-19 and, in more general, towards an increasing acceptance and adoption of AI-assisted applications in the clinical practice.

Jaynal Abedin, Joseph Antony, Kevin McGuinness et al.

Knee osteoarthritis (KOA) is a disease that impairs knee function and causes pain. A radiologist reviews knee X-ray images and grades the severity level of the impairments according to the Kellgren and Lawrence grading scheme; a five-point ordinal scale (0--4). In this study, we used Elastic Net (EN) and Random Forests (RF) to build predictive models using patient assessment data (i.e. signs and symptoms of both knees and medication use) and a convolution neural network (CNN) trained using X-ray images only. Linear mixed effect models (LMM) were used to model the within subject correlation between the two knees. The root mean squared error for the CNN, EN, and RF models was 0.77, 0.97, and 0.94 respectively. The LMM shows similar overall prediction accuracy as the EN regression but correctly accounted for the hierarchical structure of the data resulting in more reliable inference. Useful explanatory variables were identified that could be used for patient monitoring before X-ray imaging. Our analyses suggest that the models trained for predicting the KOA severity levels achieve comparable results when modeling X-ray images and patient data. The subjectivity in the KL grade is still a primary concern.