Understanding Breast Cancer Survival: Using Causality and Language Models on Multi-omics Data

The need for more usable and explainable machine learning models in healthcare increases the importance of developing and utilizing causal discovery algorithms, which aim to discover causal relations by analyzing observational data. Explainable approaches aid clinicians and biologists in predicting the prognosis of diseases and suggesting proper treatments. However, very little research has been conducted at the crossroads between causal discovery, genomics, and breast cancer, and we aim to bridge this gap. Moreover, evaluation of causal discovery methods on real data is in general notoriously difficult because ground-truth causal relations are usually unknown, and accordingly, in this paper, we also propose to address the evaluation problem with large language models. In particular, we exploit suitable causal discovery algorithms to investigate how various perturbations in the genome can affect the survival of patients diagnosed with breast cancer. We used three main causal discovery algorithms: PC, Greedy Equivalence Search (GES), and a Generalized Precision Matrix-based one. We experiment with a subset of The Cancer Genome Atlas, which contains information about mutations, copy number variations, protein levels, and gene expressions for 705 breast cancer patients. Our findings reveal important factors related to the vital status of patients using causal discovery algorithms. However, the reliability of these results remains a concern in the medical domain. Accordingly, as another contribution of the work, the results are validated through language models trained on biomedical literature, such as BlueBERT and other large language models trained on medical corpora. Our results profess proper utilization of causal discovery algorithms and language models for revealing reliable causal relations for clinical applications.

Uncertainty Guided Label Denoising for Document-level Distant Relation Extraction

Document-level relation extraction (DocRE) aims to infer complex semantic relations among entities in a document. Distant supervision (DS) is able to generate massive auto-labeled data, which can improve DocRE performance. Recent works leverage pseudo labels generated by the pre-denoising model to reduce noise in DS data. However, unreliable pseudo labels bring new noise, e.g., adding false pseudo labels and losing correct DS labels. Therefore, how to select effective pseudo labels to denoise DS data is still a challenge in document-level distant relation extraction. To tackle this issue, we introduce uncertainty estimation technology to determine whether pseudo labels can be trusted. In this work, we propose a Document-level distant Relation Extraction framework with Uncertainty Guided label denoising, UGDRE. Specifically, we propose a novel instance-level uncertainty estimation method, which measures the reliability of the pseudo labels with overlapping relations. By further considering the long-tail problem, we design dynamic uncertainty thresholds for different types of relations to filter high-uncertainty pseudo labels. We conduct experiments on two public datasets. Our framework outperforms strong baselines by 1.91 F1 and 2.28 Ign F1 on the RE-DocRED dataset.

Voices of Her: Analyzing Gender Differences in the AI Publication World

While several previous studies have analyzed gender bias in research, we are still missing a comprehensive analysis of gender differences in the AI community, covering diverse topics and different development trends. Using the AI Scholar dataset of 78K researchers in the field of AI, we identify several gender differences: (1) Although female researchers tend to have fewer overall citations than males, this citation difference does not hold for all academic-age groups; (2) There exist large gender homophily in co-authorship on AI papers; (3) Female first-authored papers show distinct linguistic styles, such as longer text, more positive emotion words, and more catchy titles than male first-authored papers. Our analysis provides a window into the current demographic trends in our AI community, and encourages more gender equality and diversity in the future. Our code and data are at https://github.com/causalNLP/ai-scholar-gender.

Generalized Precision Matrix for Scalable Estimation of Nonparametric Markov Networks

A Markov network characterizes the conditional independence structure, or Markov property, among a set of random variables. Existing work focuses on specific families of distributions (e.g., exponential families) and/or certain structures of graphs, and most of them can only handle variables of a single data type (continuous or discrete). In this work, we characterize the conditional independence structure in general distributions for all data types (i.e., continuous, discrete, and mixed-type) with a Generalized Precision Matrix (GPM). Besides, we also allow general functional relations among variables, thus giving rise to a Markov network structure learning algorithm in one of the most general settings. To deal with the computational challenge of the problem, especially for large graphs, we unify all cases under the same umbrella of a regularized score matching framework. We validate the theoretical results and demonstrate the scalability empirically in various settings.

Feature Expansion for Graph Neural Networks

Graph neural networks aim to learn representations for graph-structured data and show impressive performance, particularly in node classification. Recently, many methods have studied the representations of GNNs from the perspective of optimization goals and spectral graph theory. However, the feature space that dominates representation learning has not been systematically studied in graph neural networks. In this paper, we propose to fill this gap by analyzing the feature space of both spatial and spectral models. We decompose graph neural networks into determined feature spaces and trainable weights, providing the convenience of studying the feature space explicitly using matrix space analysis. In particular, we theoretically find that the feature space tends to be linearly correlated due to repeated aggregations. Motivated by these findings, we propose 1) feature subspaces flattening and 2) structural principal components to expand the feature space. Extensive experiments verify the effectiveness of our proposed more comprehensive feature space, with comparable inference time to the baseline, and demonstrate its efficient convergence capability.

Explainable Recommender with Geometric Information Bottleneck

Explainable recommender systems can explain their recommendation decisions, enhancing user trust in the systems. Most explainable recommender systems either rely on human-annotated rationales to train models for explanation generation or leverage the attention mechanism to extract important text spans from reviews as explanations. The extracted rationales are often confined to an individual review and may fail to identify the implicit features beyond the review text. To avoid the expensive human annotation process and to generate explanations beyond individual reviews, we propose to incorporate a geometric prior learnt from user-item interactions into a variational network which infers latent factors from user-item reviews. The latent factors from an individual user-item pair can be used for both recommendation and explanation generation, which naturally inherit the global characteristics encoded in the prior knowledge. Experimental results on three e-commerce datasets show that our model significantly improves the interpretability of a variational recommender using the Wasserstein distance while achieving performance comparable to existing content-based recommender systems in terms of recommendation behaviours.

Unsupervised Sampling Promoting for Stochastic Human Trajectory Prediction

The indeterminate nature of human motion requires trajectory prediction systems to use a probabilistic model to formulate the multi-modality phenomenon and infer a finite set of future trajectories. However, the inference processes of most existing methods rely on Monte Carlo random sampling, which is insufficient to cover the realistic paths with finite samples, due to the long tail effect of the predicted distribution. To promote the sampling process of stochastic prediction, we propose a novel method, called BOsampler, to adaptively mine potential paths with Bayesian optimization in an unsupervised manner, as a sequential design strategy in which new prediction is dependent on the previously drawn samples. Specifically, we model the trajectory sampling as a Gaussian process and construct an acquisition function to measure the potential sampling value. This acquisition function applies the original distribution as prior and encourages exploring paths in the long-tail region. This sampling method can be integrated with existing stochastic predictive models without retraining. Experimental results on various baseline methods demonstrate the effectiveness of our method.

Scalable Causal Discovery with Score Matching

This paper demonstrates how to discover the whole causal graph from the second derivative of the log-likelihood in observational non-linear additive Gaussian noise models. Leveraging scalable machine learning approaches to approximate the score function $\nabla \log p(\mathbf{X})$, we extend the work of Rolland et al. (2022) that only recovers the topological order from the score and requires an expensive pruning step removing spurious edges among those admitted by the ordering. Our analysis leads to DAS (acronym for Discovery At Scale), a practical algorithm that reduces the complexity of the pruning by a factor proportional to the graph size. In practice, DAS achieves competitive accuracy with current state-of-the-art while being over an order of magnitude faster. Overall, our approach enables principled and scalable causal discovery, significantly lowering the compute bar.

Causal Discovery with Score Matching on Additive Models with Arbitrary Noise

Causal discovery methods are intrinsically constrained by the set of assumptions needed to ensure structure identifiability. Moreover additional restrictions are often imposed in order to simplify the inference task: this is the case for the Gaussian noise assumption on additive non-linear models, which is common to many causal discovery approaches. In this paper we show the shortcomings of inference under this hypothesis, analyzing the risk of edge inversion under violation of Gaussianity of the noise terms. Then, we propose a novel method for inferring the topological ordering of the variables in the causal graph, from data generated according to an additive non-linear model with a generic noise distribution. This leads to NoGAM (Not only Gaussian Additive noise Models), a causal discovery algorithm with a minimal set of assumptions and state of the art performance, experimentally benchmarked on synthetic data.