Stefan Decker

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, Md. Shajalal, Alex Graß et al.

Deep neural networks (DNNs) have been shown to outperform traditional machine learning algorithms in a broad variety of application domains due to their effectiveness in modeling complex problems and handling high-dimensional datasets. Many real-life datasets, however, are of increasingly high dimensionality, where a large number of features may be irrelevant for both supervised and unsupervised learning tasks. The inclusion of such features would not only introduce unwanted noise but also increase computational complexity. Furthermore, due to high non-linearity and dependency among a large number of features, DNN models tend to be unavoidably opaque and perceived as black-box methods because of their not well-understood internal functioning. Their algorithmic complexity is often simply beyond the capacities of humans to understand the interplay among myriads of hyperparameters. A well-interpretable model can identify statistically significant features and explain the way they affect the model's outcome. In this paper, we propose an efficient method to improve the interpretability of black-box models for classification tasks in the case of high-dimensional datasets. First, we train a black-box model on a high-dimensional dataset to learn the embeddings on which the classification is performed. To decompose the inner working principles of the black-box model and to identify top-k important features, we employ different probing and perturbing techniques. We then approximate the behavior of the black-box model by means of an interpretable surrogate model on the top-k feature space. Finally, we derive decision rules and local explanations from the surrogate model to explain individual decisions. Our approach outperforms state-of-the-art methods like TabNet and XGboost when tested on different datasets with varying dimensionality between 50 and 20,000 w.r.t metrics and explainability.

Md. Rezaul Karim, Hussain Ali, Prinon Das 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 knowledge graph (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. A question-answering (QA) system allows the answer of natural language questions over KGs automatically using triples contained in a KG. Recently, the use and adaption of digital assistants are getting wider owing to their capability at enabling users to voice commands to control smart systems or devices. This paper is about using Amazon Alexa's voice-enabled interface for QA over KGs. As a proof-of-concept, we use the well-known DisgeNET KG, which contains knowledge covering 1.13 million gene-disease associations between 21,671 genes and 30,170 diseases, disorders, and clinical or abnormal human phenotypes. Our study shows how Alex could be of help to find facts about certain biological entities from large-scale knowledge bases.

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.

Stefan Decker

Advancements in computer science and AI lead to the development of larger, more complex knowledge bases. These are susceptible to contradictions, particularly when multiple experts are involved. To ensure integrity during changes, procedures are needed. This work addresses the problem from a logical programming perspective. Integrity violations can be interpreted as special operations on proofs of integrity constraints, with SLDNF proofs being the focus. We define a proof tree as a special data structure and demonstrate the implication of the existence of an SLDNF proof through such a tree. Proof trees are more convenient than SLDNF trees and allow set-oriented considerations of proofs. They also present the proof structure more clearly, enabling further applications. Using this structure, we determine a minimal set of conditions that specify when a change in the knowledge base affects the validity of an integrity constraint. Additionally, this approach allows for the reuse of large parts of the old proof when searching for a new one, which reduces the effort compared to previous approaches.

Er Jin, Yang Zhang, Yongli Mou et al.

Recent advances in generative models have demonstrated an exceptional ability to produce highly realistic images. However, previous studies show that generated images often resemble the training data, and this problem becomes more severe as the model size increases. Memorizing training data can lead to legal challenges, including copyright infringement, violations of portrait rights, and trademark violations. Existing approaches to mitigating memorization mainly focus on manipulating the denoising sampling process to steer image embeddings away from the memorized embedding space or employ unlearning methods that require training on datasets containing specific sets of memorized concepts. However, existing methods often incur substantial computational overhead during sampling, or focus narrowly on removing one or more groups of target concepts, imposing a significant limitation on their scalability. To understand and mitigate these problems, our work, UniForget, offers a new perspective on understanding the root cause of memorization. Our work demonstrates that specific parts of the model are responsible for copyrighted content generation. By applying model pruning, we can effectively suppress the probability of generating copyrighted content without targeting specific concepts while preserving the general generative capabilities of the model. Additionally, we show that our approach is both orthogonal and complementary to existing unlearning methods, thereby highlighting its potential to improve current unlearning and de-memorization techniques.

Sascha Welten, Karl Kindermann, Ahmet Polat et al.

With the introduction of data protection regulations, the need for innovative privacy-preserving approaches to process and analyse sensitive data has become apparent. One approach is the Personal Health Train (PHT) that brings analysis code to the data and conducts the data processing at the data premises. However, despite its demonstrated success in various studies, the execution of external code in sensitive environments, such as hospitals, introduces new research challenges because the interactions of the code with sensitive data are often incomprehensible and lack transparency. These interactions raise concerns about potential effects on the data and increases the risk of data breaches. To address this issue, this work discusses a PHT-aligned security and audit pipeline inspired by DevSecOps principles. The automated pipeline incorporates multiple phases that detect vulnerabilities. To thoroughly study its versatility, we evaluate this pipeline in two ways. First, we deliberately introduce vulnerabilities into a PHT. Second, we apply our pipeline to five real-world PHTs, which have been utilised in real-world studies, to audit them for potential vulnerabilities. Our evaluation demonstrates that our designed pipeline successfully identifies potential vulnerabilities and can be applied to real-world studies. In compliance with the requirements of the GDPR for data management, documentation, and protection, our automated approach supports researchers using in their data-intensive work and reduces manual overhead. It can be used as a decision-making tool to assess and document potential vulnerabilities in code for data processing. Ultimately, our work contributes to an increased security and overall transparency of data processing activities within the PHT framework.

Er Jin, Qihui Feng, Yongli Mou et al.

Logical image understanding involves interpreting and reasoning about the relationships and consistency within an image's visual content. This capability is essential in applications such as industrial inspection, where logical anomaly detection is critical for maintaining high-quality standards and minimizing costly recalls. Previous research in anomaly detection (AD) has relied on prior knowledge for designing algorithms, which often requires extensive manual annotations, significant computing power, and large amounts of data for training. Autoregressive, multimodal Vision Language Models (AVLMs) offer a promising alternative due to their exceptional performance in visual reasoning across various domains. Despite this, their application to logical AD remains unexplored. In this work, we investigate using AVLMs for logical AD and demonstrate that they are well-suited to the task. Combining AVLMs with format embedding and a logic reasoner, we achieve SOTA performance on public benchmarks, MVTec LOCO AD, with an AUROC of 86.0% and F1-max of 83.7%, along with explanations of anomalies. This significantly outperforms the existing SOTA method by a large margin.

Daham M. Mustafa, Abhishek Nadgeri, Diego Collarana et al.

This study presents an approach that uses large language models such as GPT-4 to generate usage policies in the W3C Open Digital Rights Language ODRL automatically from natural language instructions. Our approach uses the ODRL ontology and its documentation as a central part of the prompt. Our research hypothesis is that a curated version of existing ontology documentation will better guide policy generation. We present various heuristics for adapting the ODRL ontology and its documentation to guide an end-to-end KG construction process. We evaluate our approach in the context of dataspaces, i.e., distributed infrastructures for trustworthy data exchange between multiple participating organizations for the cultural domain. We created a benchmark consisting of 12 use cases of varying complexity. Our evaluation shows excellent results with up to 91.95% accuracy in the resulting knowledge graph.

Benedikt T. Arnold, Johannes Theissen-Lipp, Diego Collarana et al.

Dataspaces have recently gained adoption across various sectors, including traditionally less digitized domains such as culture. Leveraging Semantic Web technologies helps to make dataspaces FAIR, but their complexity poses a significant challenge to the adoption of dataspaces and increases their cost. The advent of Large Language Models (LLMs) raises the question of how these models can support the adoption of FAIR dataspaces. In this work, we demonstrate the potential of LLMs in dataspaces with a concrete example. We also derive a research agenda for exploring this emerging field.

Mehdi Akbari Gurabi, Lasse Nitz, Radu-Mihai Castravet et al.

Existing cybersecurity playbooks are often written in heterogeneous, non-machine-readable formats, which limits their automation and interoperability across Security Orchestration, Automation, and Response platforms. This paper explores the suitability of Large Language Models, combined with Prompt Engineering, to automatically translate legacy incident response playbooks into the standardized, machine-readable CACAO format. We systematically examine various Prompt Engineering techniques and carefully design prompts aimed at maximizing syntactic accuracy and semantic fidelity for control flow preservation. Our modular transformation pipeline integrates a syntax checker to ensure syntactic correctness and features an iterative refinement mechanism that progressively reduces syntactic errors. We evaluate the proposed approach on a custom-generated dataset comprising diverse legacy playbooks paired with manually created CACAO references. The results demonstrate that our method significantly improves the accuracy of playbook transformation over baseline models, effectively captures complex workflow structures, and substantially reduces errors. It highlights the potential for practical deployment in automated cybersecurity playbook transformation tasks.

Jiahui Geng, Yongli Mou, Feifei Li et al.

Unlike traditional central training, federated learning (FL) improves the performance of the global model by sharing and aggregating local models rather than local data to protect the users' privacy. Although this training approach appears secure, some research has demonstrated that an attacker can still recover private data based on the shared gradient information. This on-the-fly reconstruction attack deserves to be studied in depth because it can occur at any stage of training, whether at the beginning or at the end of model training; no relevant dataset is required and no additional models need to be trained. We break through some unrealistic assumptions and limitations to apply this reconstruction attack in a broader range of scenarios. We propose methods that can reconstruct the training data from shared gradients or weights, corresponding to the FedSGD and FedAvg usage scenarios, respectively. We propose a zero-shot approach to restore labels even if there are duplicate labels in the batch. We study the relationship between the label and image restoration. We find that image restoration fails even if there is only one incorrectly inferred label in the batch; we also find that when batch images have the same label, the corresponding image is restored as a fusion of that class of images. Our approaches are evaluated on classic image benchmarks, including CIFAR-10 and ImageNet. The batch size, image quality, and the adaptability of the label distribution of our approach exceed those of GradInversion, the state-of-the-art.

Leandro Eichenberger, Michael Cochez, Benjamin Heitmann et al.

Finding out the differences and commonalities between the knowledge of two parties is an important task. Such a comparison becomes necessary, when one party wants to determine how much it is worth to acquire the knowledge of the second party, or similarly when two parties try to determine, whether a collaboration could be beneficial. When these two parties cannot trust each other (for example, due to them being competitors) performing such a comparison is challenging as neither of them would be willing to share any of their assets. This paper addresses this problem for knowledge graphs, without a need for non-disclosure agreements nor a third party during the protocol. During the protocol, the intersection between the two knowledge graphs is determined in a privacy preserving fashion. This is followed by the computation of various metrics, which give an indication of the potential gain from obtaining the other parties knowledge graph, while still keeping the actual knowledge graph contents secret. The protocol makes use of blind signatures and (counting) Bloom filters to reduce the amount of leaked information. Finally, the party who wants to obtain the other's knowledge graph can get a part of such in a way that neither party is able to know beforehand which parts of the graph are obtained (i.e., they cannot choose to only get or share the good parts). After inspection of the quality of this part, the Buyer can decide to proceed with the transaction. The analysis of the protocol indicates that the developed protocol is secure against malicious participants. Further experimental analysis shows that the resource consumption scales linear with the number of statements in the knowledge graph.

Md. Rezaul Karim, Sumon Kanti Dey, Tanhim Islam et al.

The exponential growths of social media and micro-blogging sites not only provide platforms for empowering freedom of expressions and individual voices, but also enables people to express anti-social behaviour like online harassment, cyberbullying, and hate speech. Numerous works have been proposed to utilize textual data for social and anti-social behaviour analysis, by predicting the contexts mostly for highly-resourced languages like English. However, some languages are under-resourced, e.g., South Asian languages like Bengali, that lack computational resources for accurate natural language processing (NLP). In this paper, we propose an explainable approach for hate speech detection from the under-resourced Bengali language, which we called DeepHateExplainer. Bengali texts are first comprehensively preprocessed, before classifying them into political, personal, geopolitical, and religious hates using a neural ensemble method of transformer-based neural architectures (i.e., monolingual Bangla BERT-base, multilingual BERT-cased/uncased, and XLM-RoBERTa). Important(most and least) terms are then identified using sensitivity analysis and layer-wise relevance propagation(LRP), before providing human-interpretable explanations. Finally, we compute comprehensiveness and sufficiency scores to measure the quality of explanations w.r.t faithfulness. Evaluations against machine learning~(linear and tree-based models) and neural networks (i.e., CNN, Bi-LSTM, and Conv-LSTM with word embeddings) baselines yield F1-scores of 78%, 91%, 89%, and 84%, for political, personal, geopolitical, and religious hates, respectively, outperforming both ML and DNN baselines.

Sabrina Kirrane, Alessandra Mileo, Axel Polleres et al.

In recent years we have seen significant advances in the technology used to both publish and consume Linked Data. However, in order to support the next generation of ebusiness applications on top of interlinked machine readable data suitable forms of access control need to be put in place. Although a number of access control models and frameworks have been put forward, very little research has been conducted into the security implications associated with granting access to partial data or the correctness of the proposed access control mechanisms. Therefore the contributions of this paper are two fold: we propose a query rewriting algorithm which can be used to partially restrict access to SPARQL 1.1 queries and updates; and we demonstrate how a set of criteria, which was originally used to verify that an access control policy holds over different database states, can be adapted to verify the correctness of access control via query rewriting.

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.

Md. Rezaul Karim, Michael Cochez, Oya Beyan et al.

The discovery of important biomarkers is a significant step towards understanding the molecular mechanisms of carcinogenesis; enabling accurate diagnosis for, and prognosis of, a certain cancer type. Before recommending any diagnosis, genomics data such as gene expressions(GE) and clinical outcomes need to be analyzed. However, complex nature, high dimensionality, and heterogeneity in genomics data make the overall analysis challenging. Convolutional neural networks(CNN) have shown tremendous success in solving such problems. However, neural network models are perceived mostly as `black box' methods because of their not well-understood internal functioning. However, interpretability is important to provide insights on why a given cancer case has a certain type. Besides, finding the most important biomarkers can help in recommending more accurate treatments and drug repositioning. In this paper, we propose a new approach called OncoNetExplainer to make explainable predictions of cancer types based on GE data. We used genomics data about 9,074 cancer patients covering 33 different cancer types from the Pan-Cancer Atlas on which we trained CNN and VGG16 networks using guided-gradient class activation maps++(GradCAM++). Further, we generate class-specific heat maps to identify significant biomarkers and computed feature importance in terms of mean absolute impact to rank top genes across all the cancer types. Quantitative and qualitative analyses show that both models exhibit high confidence at predicting the cancer types correctly giving an average precision of 96.25%. To provide comparisons with the baselines, we identified top genes, and cancer-specific driver genes using gradient boosted trees and SHapley Additive exPlanations(SHAP). Finally, our findings were validated with the annotations provided by the TumorPortal.

Ruijie Wang, Meng Wang, Jun Liu et al.

In order to facilitate the accesses of general users to knowledge graphs, an increasing effort is being exerted to construct graph-structured queries of given natural language questions. At the core of the construction is to deduce the structure of the target query and determine the vertices/edges which constitute the query. Existing query construction methods rely on question understanding and conventional graph-based algorithms which lead to inefficient and degraded performances facing complex natural language questions over knowledge graphs with large scales. In this paper, we focus on this problem and propose a novel framework standing on recent knowledge graph embedding techniques. Our framework first encodes the underlying knowledge graph into a low-dimensional embedding space by leveraging generalized local knowledge graphs. Given a natural language question, the learned embedding representations of the knowledge graph are utilized to compute the query structure and assemble vertices/edges into the target query. Extensive experiments were conducted on the benchmark dataset, and the results demonstrate that our framework outperforms state-of-the-art baseline models regarding effectiveness and efficiency.

Andrei Ionita, André Pomp, Michael Cochez et al.

Smart cities around the world have begun monitoring parking areas in order to estimate available parking spots and help drivers looking for parking. The current results are promising, indeed. However, existing approaches are limited by the high cost of sensors that need to be installed throughout the city in order to achieve an accurate estimation. This work investigates the extension of estimating parking information from areas equipped with sensors to areas where they are missing. To this end, the similarity between city neighborhoods is determined based on background data, i.e., from geographic information systems. Using the derived similarity values, we analyze the adaptation of occupancy rates from monitored- to unmonitored parking areas.

Md. Rezaul Karim, Michael Cochez, Joao Bosco Jares et al.

Interference between pharmacological substances can cause serious medical injuries. Correctly predicting so-called drug-drug interactions (DDI) does not only reduce these cases but can also result in a reduction of drug development cost. Presently, most drug-related knowledge is the result of clinical evaluations and post-marketing surveillance; resulting in a limited amount of information. Existing data-driven prediction approaches for DDIs typically rely on a single source of information, while using information from multiple sources would help improve predictions. Machine learning (ML) techniques are used, but the techniques are often unable to deal with skewness in the data. Hence, we propose a new ML approach for predicting DDIs based on multiple data sources. For this task, we use 12,000 drug features from DrugBank, PharmGKB, and KEGG drugs, which are integrated using Knowledge Graphs (KGs). To train our prediction model, we first embed the nodes in the graph using various embedding approaches. We found that the best performing combination was a ComplEx embedding method creating using PyTorch-BigGraph (PBG) with a Convolutional-LSTM network and classic machine learning-based prediction models. The model averaging ensemble method of three best classifiers yields up to 0.94, 0.92, 0.80 for AUPR, F1-score, and MCC, respectively during 5-fold cross-validation tests.

Md. Rezaul Karim, Michael Cochez, Achille Zappa et al.

The study of genetic variants can help find correlating population groups to identify cohorts that are predisposed to common diseases and explain differences in disease susceptibility and how patients react to drugs. Machine learning algorithms are increasingly being applied to identify interacting GVs to understand their complex phenotypic traits. Since the performance of a learning algorithm not only depends on the size and nature of the data but also on the quality of underlying representation, deep neural networks can learn non-linear mappings that allow transforming GVs data into more clustering and classification friendly representations than manual feature selection. In this paper, we proposed convolutional embedded networks in which we combine two DNN architectures called convolutional embedded clustering and convolutional autoencoder classifier for clustering individuals and predicting geographic ethnicity based on GVs, respectively. We employed CAE-based representation learning on 95 million GVs from the 1000 genomes and Simons genome diversity projects. Quantitative and qualitative analyses with a focus on accuracy and scalability show that our approach outperforms state-of-the-art approaches such as VariantSpark and ADMIXTURE. In particular, CEC can cluster targeted population groups in 22 hours with an adjusted rand index of 0.915, the normalized mutual information of 0.92, and the clustering accuracy of 89%. Contrarily, the CAE classifier can predict the geographic ethnicity of unknown samples with an F1 and Mathews correlation coefficient(MCC) score of 0.9004 and 0.8245, respectively. To provide interpretations of the predictions, we identify significant biomarkers using gradient boosted trees(GBT) and SHAP. Overall, our approach is transparent and faster than the baseline methods, and scalable for 5% to 100% of the full human genome.

Michael Cochez, Stefan Decker, Eric Prud'hommeaux

In recent years RDF and OWL have become the most common knowledge representation languages in use on the Web, propelled by the recommendation of the W3C. In this paper we present a practical implementation of a different kind of knowledge representation based on Prototypes. In detail, we present a concrete syntax easily and effectively parsable by applications. We also present extensible implementations of a prototype knowledge base, specifically designed for storage of Prototypes. These implementations are written in Java and can be extended by using the implementation as a library. Alternatively, the software can be deployed as such. Further, results of benchmarks for both local and web deployment are presented. This paper augments a research paper, in which we describe the more theoretical aspects of our Prototype system.