The discovery of therapeutics to treat genetically-driven pathologies relies on identifying genes involved in the underlying disease mechanisms. Existing approaches search over the billions of potential interventions to maximize the expected influence on the target phenotype. However, to reduce the risk of failure in future stages of trials, practical experiment design aims to find a set of interventions that maximally change a target phenotype via diverse mechanisms. We propose DiscoBAX, a sample-efficient method for maximizing the rate of significant discoveries per experiment while simultaneously probing for a wide range of diverse mechanisms during a genomic experiment campaign. We provide theoretical guarantees of approximate optimality under standard assumptions, and conduct a comprehensive experimental evaluation covering both synthetic as well as real-world experimental design tasks. DiscoBAX outperforms existing state-of-the-art methods for experimental design, selecting effective and diverse perturbations in biological systems.
The expressiveness of neural networks highly depends on the nature of the activation function, although these are usually assumed predefined and fixed during the training stage. Under a signal processing perspective, in this paper we present Expressive Neural Network (ENN), a novel model in which the non-linear activation functions are modeled using the Discrete Cosine Transform (DCT) and adapted using backpropagation during training. This parametrization keeps the number of trainable parameters low, is appropriate for gradient-based schemes, and adapts to different learning tasks. This is the first non-linear model for activation functions that relies on a signal processing perspective, providing high flexibility and expressiveness to the network. We contribute with insights in the explainability of the network at convergence by recovering the concept of bump, this is, the response of each activation function in the output space. Finally, through exhaustive experiments we show that the model can adapt to classification and regression tasks. The performance of ENN outperforms state of the art benchmarks, providing above a 40% gap in accuracy in some scenarios.
Chromogenic RNAscope dye and haematoxylin staining of cancer tissue facilitates diagnosis of the cancer type and subsequent treatment, and fits well into existing pathology workflows. However, manual quantification of the RNAscope transcripts (dots), which signify gene expression, is prohibitively time consuming. In addition, there is a lack of verified supporting methods for quantification and analysis. This paper investigates the usefulness of gray level texture features for automatically segmenting and classifying the positions of RNAscope transcripts from breast cancer tissue. Feature analysis showed that a small set of gray level features, including Gray Level Dependence Matrix and Neighbouring Gray Tone Difference Matrix features, were well suited for the task. The automated method performed similarly to expert annotators at identifying the positions of RNAscope transcripts, with an F1-score of 0.571 compared to the expert inter-rater F1-score of 0.596. These results demonstrate the potential of gray level texture features for automated quantification of RNAscope in the pathology workflow.
Intervertebral disc disease, a prevalent ailment, frequently leads to intermittent or persistent low back pain, and diagnosing and assessing of this disease rely on accurate measurement of vertebral bone and intervertebral disc geometries from lumbar MR images. Deep neural network (DNN) models may assist clinicians with more efficient image segmentation of individual instances (disks and vertebrae) of the lumbar spine in an automated way, which is termed as instance image segmentation. In this work, we proposed SymTC, an innovative lumbar spine MR image segmentation model that combines the strengths of Transformer and Convolutional Neural Network (CNN). Specifically, we designed a parallel dual-path architecture to merge CNN layers and Transformer layers, and we integrated a novel position embedding into the self-attention module of Transformer, enhancing the utilization of positional information for more accurate segmentation. To further improves model performance, we introduced a new data augmentation technique to create synthetic yet realistic MR image dataset, named SSMSpine, which is made publicly available. We evaluated our SymTC and the other 15 existing image segmentation models on our private in-house dataset and the public SSMSpine dataset, using two metrics, Dice Similarity Coefficient and 95% Hausdorff Distance. The results show that our SymTC has the best performance for segmenting vertebral bones and intervertebral discs in lumbar spine MR images. The SymTC code and SSMSpine dataset are available at //github.com/jiasongchen/SymTC.
Implicit neural representations (INRs) are a rapidly growing research field, which provides alternative ways to represent multimedia signals. Recent applications of INRs include image super-resolution, compression of high-dimensional signals, or 3D rendering. However, these solutions usually focus on visual data, and adapting them to the audio domain is not trivial. Moreover, it requires a separately trained model for every data sample. To address this limitation, we propose HyperSound, a meta-learning method leveraging hypernetworks to produce INRs for audio signals unseen at training time. We show that our approach can reconstruct sound waves with quality comparable to other state-of-the-art models.
Early detection of melanoma, a potentially lethal type of skin cancer with high prevalence worldwide, improves patient prognosis. In retrospective studies, artificial intelligence (AI) has proven to be helpful for enhancing melanoma detection. However, there are few prospective studies confirming these promising results. Existing studies are limited by low sample sizes, too homogenous datasets, or lack of inclusion of rare melanoma subtypes, preventing a fair and thorough evaluation of AI and its generalizability, a crucial aspect for its application in the clinical setting. Therefore, we assessed 'All Data are Ext' (ADAE), an established open-source ensemble algorithm for detecting melanomas, by comparing its diagnostic accuracy to that of dermatologists on a prospectively collected, external, heterogeneous test set comprising eight distinct hospitals, four different camera setups, rare melanoma subtypes, and special anatomical sites. We advanced the algorithm with real test-time augmentation (R-TTA, i.e. providing real photographs of lesions taken from multiple angles and averaging the predictions), and evaluated its generalization capabilities. Overall, the AI showed higher balanced accuracy than dermatologists (0.798, 95% confidence interval (CI) 0.779-0.814 vs. 0.781, 95% CI 0.760-0.802; p<0.001), obtaining a higher sensitivity (0.921, 95% CI 0.900- 0.942 vs. 0.734, 95% CI 0.701-0.770; p<0.001) at the cost of a lower specificity (0.673, 95% CI 0.641-0.702 vs. 0.828, 95% CI 0.804-0.852; p<0.001). As the algorithm exhibited a significant performance advantage on our heterogeneous dataset exclusively comprising melanoma-suspicious lesions, AI may offer the potential to support dermatologists particularly in diagnosing challenging cases.
With the emergence and spread of infectious diseases with pandemic potential, such as COVID- 19, the urgency for vaccine development have led to unprecedented compressed and accelerated schedules that shortened the standard development timeline. In a relatively short time, the leading pharmaceutical companies1, received an Emergency Use Authorization (EUA) for vaccine\prime s en-mass deployment To monitor the potential side effect(s) of the vaccine during the (initial) vaccination campaign, we developed an optimal sequential test that allows for the early detection of potential side effect(s). This test employs a rule to stop the vaccination process once the observed number of side effect incidents exceeds a certain (pre-determined) threshold. The optimality of the proposed sequential test is justified when compared with the ({\alpha}, {\beta}) optimality of the non-randomized fixed-sample Uniformly Most Powerful (UMP) test. In the case of a single side effect, we study the properties of the sequential test and derive the exact expressions of the Average Sample Number (ASN) curve of the stopping time (and its variance) via the regularized incomplete beta function. Additionally, we derive the asymptotic distribution of the relative savings in ASN as compared to maximal sample size. Moreover, we construct the post-test parameter estimate and studied its sampling properties, including its asymptotic behavior under local-type alternatives. These limiting behavior results are the consistency and asymptotic normality of the post-test parameter estimator. We conclude the paper with a small simulation study illustrating the asymptotic performance of the point and interval estimation and provide a detailed example, based on COVID-19 side effect data (see Beatty et al. (2021)) of our suggested testing procedure.
In pace with developments in the research field of artificial intelligence, knowledge graphs (KGs) have attracted a surge of interest from both academia and industry. As a representation of semantic relations between entities, KGs have proven to be particularly relevant for natural language processing (NLP), experiencing a rapid spread and wide adoption within recent years. Given the increasing amount of research work in this area, several KG-related approaches have been surveyed in the NLP research community. However, a comprehensive study that categorizes established topics and reviews the maturity of individual research streams remains absent to this day. Contributing to closing this gap, we systematically analyzed 507 papers from the literature on KGs in NLP. Our survey encompasses a multifaceted review of tasks, research types, and contributions. As a result, we present a structured overview of the research landscape, provide a taxonomy of tasks, summarize our findings, and highlight directions for future work.
Understanding causality helps to structure interventions to achieve specific goals and enables predictions under interventions. With the growing importance of learning causal relationships, causal discovery tasks have transitioned from using traditional methods to infer potential causal structures from observational data to the field of pattern recognition involved in deep learning. The rapid accumulation of massive data promotes the emergence of causal search methods with brilliant scalability. Existing summaries of causal discovery methods mainly focus on traditional methods based on constraints, scores and FCMs, there is a lack of perfect sorting and elaboration for deep learning-based methods, also lacking some considers and exploration of causal discovery methods from the perspective of variable paradigms. Therefore, we divide the possible causal discovery tasks into three types according to the variable paradigm and give the definitions of the three tasks respectively, define and instantiate the relevant datasets for each task and the final causal model constructed at the same time, then reviews the main existing causal discovery methods for different tasks. Finally, we propose some roadmaps from different perspectives for the current research gaps in the field of causal discovery and point out future research directions.
Graph neural networks generalize conventional neural networks to graph-structured data and have received widespread attention due to their impressive representation ability. In spite of the remarkable achievements, the performance of Euclidean models in graph-related learning is still bounded and limited by the representation ability of Euclidean geometry, especially for datasets with highly non-Euclidean latent anatomy. Recently, hyperbolic space has gained increasing popularity in processing graph data with tree-like structure and power-law distribution, owing to its exponential growth property. In this survey, we comprehensively revisit the technical details of the current hyperbolic graph neural networks, unifying them into a general framework and summarizing the variants of each component. More importantly, we present various HGNN-related applications. Last, we also identify several challenges, which potentially serve as guidelines for further flourishing the achievements of graph learning in hyperbolic spaces.
We consider the problem of explaining the predictions of graph neural networks (GNNs), which otherwise are considered as black boxes. Existing methods invariably focus on explaining the importance of graph nodes or edges but ignore the substructures of graphs, which are more intuitive and human-intelligible. In this work, we propose a novel method, known as SubgraphX, to explain GNNs by identifying important subgraphs. Given a trained GNN model and an input graph, our SubgraphX explains its predictions by efficiently exploring different subgraphs with Monte Carlo tree search. To make the tree search more effective, we propose to use Shapley values as a measure of subgraph importance, which can also capture the interactions among different subgraphs. To expedite computations, we propose efficient approximation schemes to compute Shapley values for graph data. Our work represents the first attempt to explain GNNs via identifying subgraphs explicitly and directly. Experimental results show that our SubgraphX achieves significantly improved explanations, while keeping computations at a reasonable level.