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Sparsity regularization via tree-structured environments for disentangled representations

Elliot Layne, Jason Hartford, Sébastien Lachapelle, Mathieu Blanchette, Dhanya Sridhar

TL;DR

The paper tackles learning disentangled latent variables from measurements collected across related environments arranged as a tree, a setting common in biology. It introduces Tree-Based Regularization (TBR), which jointly learns an encoder, a root parameter $\hat{w}_0$, and edge mutations $\hat{\Delta}$ by minimizing prediction error across leaf environments while enforcing sparsity on $\hat{\Delta}$ to reflect sparse changes in $P_e(Y|\mathbf{Z})$. The authors prove identifiability results: latent variables are identifiable up to permutation and scaling under the proposed sparsity regime, with a two-part argument that first handles nonlinear encoders via linear identifiability and then leverages $L_0$ sparsity to rule out entangled solutions. Empirically, TBR outperforms a baseline in disentangling latents (MCC), maintains lower predictive error across varying sparsity, and improves generalization to unseen environments, including in single-cell RNA-seq settings. These findings highlight the potential of exploiting hierarchical, sparse environment changes to enable causal discovery and robust transfer in complex biological data, while outlining directions to relax linearity and extend the theory.

Abstract

Many causal systems such as biological processes in cells can only be observed indirectly via measurements, such as gene expression. Causal representation learning -- the task of correctly mapping low-level observations to latent causal variables -- could advance scientific understanding by enabling inference of latent variables such as pathway activation. In this paper, we develop methods for inferring latent variables from multiple related datasets (environments) and tasks. As a running example, we consider the task of predicting a phenotype from gene expression, where we often collect data from multiple cell types or organisms that are related in known ways. The key insight is that the mapping from latent variables driven by gene expression to the phenotype of interest changes sparsely across closely related environments. To model sparse changes, we introduce Tree-Based Regularization (TBR), an objective that minimizes both prediction error and regularizes closely related environments to learn similar predictors. We prove that under assumptions about the degree of sparse changes, TBR identifies the true latent variables up to some simple transformations. We evaluate the theory empirically with both simulations and ground-truth gene expression data. We find that TBR recovers the latent causal variables better than related methods across these settings, even under settings that violate some assumptions of the theory.

Sparsity regularization via tree-structured environments for disentangled representations

TL;DR

The paper tackles learning disentangled latent variables from measurements collected across related environments arranged as a tree, a setting common in biology. It introduces Tree-Based Regularization (TBR), which jointly learns an encoder, a root parameter , and edge mutations by minimizing prediction error across leaf environments while enforcing sparsity on to reflect sparse changes in . The authors prove identifiability results: latent variables are identifiable up to permutation and scaling under the proposed sparsity regime, with a two-part argument that first handles nonlinear encoders via linear identifiability and then leverages sparsity to rule out entangled solutions. Empirically, TBR outperforms a baseline in disentangling latents (MCC), maintains lower predictive error across varying sparsity, and improves generalization to unseen environments, including in single-cell RNA-seq settings. These findings highlight the potential of exploiting hierarchical, sparse environment changes to enable causal discovery and robust transfer in complex biological data, while outlining directions to relax linearity and extend the theory.

Abstract

Many causal systems such as biological processes in cells can only be observed indirectly via measurements, such as gene expression. Causal representation learning -- the task of correctly mapping low-level observations to latent causal variables -- could advance scientific understanding by enabling inference of latent variables such as pathway activation. In this paper, we develop methods for inferring latent variables from multiple related datasets (environments) and tasks. As a running example, we consider the task of predicting a phenotype from gene expression, where we often collect data from multiple cell types or organisms that are related in known ways. The key insight is that the mapping from latent variables driven by gene expression to the phenotype of interest changes sparsely across closely related environments. To model sparse changes, we introduce Tree-Based Regularization (TBR), an objective that minimizes both prediction error and regularizes closely related environments to learn similar predictors. We prove that under assumptions about the degree of sparse changes, TBR identifies the true latent variables up to some simple transformations. We evaluate the theory empirically with both simulations and ground-truth gene expression data. We find that TBR recovers the latent causal variables better than related methods across these settings, even under settings that violate some assumptions of the theory.
Paper Structure (20 sections, 3 theorems, 26 equations, 8 figures, 3 tables)

This paper contains 20 sections, 3 theorems, 26 equations, 8 figures, 3 tables.

Key Result

Proposition 3.4

Suppose Assumptions ass:dgp, ass:suff_var_w & ass:suff_var_z hold. Moreover, consider the learned parameters $\hat{w}_0$ and $\{\hat{\delta}_a\}_{a\in\mathcal{A}}$ and the learned encoder function $\hat{\Psi}(x)$. Analogously to Equation eq:w_e_def, we define $\hat{w}_e := \hat{w}_0 + \sum_{a \in \t

Figures (8)

  • Figure 1: The causal directed acyclic graph (DAG) relating observations $\textbf{X}$, latents $\textbf{Z}$ and target variable of interest $Y$. The marginal of $X$ and $\textbf{Z} \rightarrow Y$ relationship is specific to environment $e$.
  • Figure 2: An example of posited DGP and corresponding TBR parameterization for a dataset with samples originating from three different environments ($A, B$, and $C$). A set of weights $W_0$ is associated to the root. A trainable update $W_e$ is associated to each edge $e$. The prediction function $f_u$ at node $u$ will make predictions on data samples originating from environment $u$. Adapted from dendronet.
  • Figure 3: Assessment of model performance across various simulation settings. The x-axis indicates the number of non-zero entries in each $\delta$. Left: A comparison of the MCC between $\textbf{Z}$ and the estimates $\hat{\textbf{Z}}$ produced by TBR and the baseline method. TBR achieves near perfect disentanglement when $S = 1$. Right: Comparison of prediction error produced by TBR and the baseline method when estimating $Y$.
  • Figure 4: Left panel: A comparison of the MCC between $\hat{\mathbf{Z}}$ and $\mathbf{Z}$ across various settings of sparsity in the simulation procedure, when $\mathbf{X}$ and $\mathbf{Z}$ are both ground-truth gene expression measurements. Results are averaged over $30$ simulated phenotypes for each of $75$ random choices of genes to serve as $\mathbf{Z}$. Right panel: MSE exhibited when generalizing trained instances of TBR and the baseline method to unseen cell types with $1$-Sparse generative parameters changes, while varying the $S$ setting of training environments. Results are averaged over $10$ simulated phenotypes each for $50$ random choices of $\mathbf{Z}$ and $4$ held-out test cell types.
  • Figure 5: Assessment of model performance across various simulation settings, with observations available only that the leaf nodes.
  • ...and 3 more figures

Theorems & Definitions (6)

  • Proposition 3.4
  • Proposition 3.7: Disentanglement via 1-sparse perturbations
  • proof
  • proof
  • Lemma A.1: Sparsity pattern of an invertible matrix contains a permutation
  • proof