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Biomarker discovery from high-throughput transcriptomic data is crucial for advancing precision medicine. However, existing methods often neglect gene-gene regulatory relationships and lack stability across datasets, leading to conflation…

Quantitative Methods · Quantitative Biology 2025-11-18 Chaowang Lan , Jingxin Wu , Yulong Yuan , Chuxun Liu , Huangyi Kang , Caihua Liu

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

Genomics · Quantitative Biology 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

Genomic data are subject to various sources of confounding, such as demographic variables, biological heterogeneity, and batch effects. To identify genomic features associated with a variable of interest in the presence of confounders, the…

Methodology · Statistics 2025-12-08 Asmita Roy , Jun Chen , Xianyang Zhang

Gene-regulatory enhancers have been identified by many lines of evidence, including evolutionary conservation, regulatory protein binding, chromatin modifications, and DNA sequence motifs. To integrate these different approaches, we…

Genomics · Quantitative Biology 2015-06-17 Genevieve D. Erwin , Rebecca M. Truty , Dennis Kostka , Katherine S. Pollard , John A. Capra

The advent of high--throughput transcription profiling technologies has enabled identification of genes and pathways associated with disease, providing new avenues for precision medicine. A key challenge is to analyze this data in the…

Quantitative Methods · Quantitative Biology 2019-01-11 Sahil D. Shah , Rosemary Braun

Unraveling the co-expression of genes across studies enhances the understanding of cellular processes. Inferring gene co-expression networks from transcriptome data presents many challenges, including spurious gene correlations, sample…

Machine Learning · Statistics 2024-10-01 Teodora Pandeva , Martijs Jonker , Leendert Hamoen , Joris Mooij , Patrick Forré

Despite their success and widespread adoption, the opaque nature of deep neural networks (DNNs) continues to hinder trust, especially in critical applications. Current interpretability solutions often yield inconsistent or oversimplified…

Machine Learning · Computer Science 2024-10-10 Alec F. Diallo , Vaishak Belle , Paul Patras

Causal discovery in multi-omic datasets is crucial for understanding the bigger picture of gene regulatory mechanisms, but remains challenging due to high dimensionality, differentiation of direct from indirect relationships, and hidden…

Genomics · Quantitative Biology 2025-05-23 Stephen Asiedu , David Watson

Inferring causal links or subgraphs corresponding to a specific phenotype or label based solely on measured data is an important yet challenging task, which is also different from inferring causal nodes. While Graph Neural Network (GNN)…

Computational Engineering, Finance, and Science · Computer Science 2024-07-30 Qibin Zhang , Chengshang Lyu , Lingxi Chen , Qiqi Jin , Luonan Chen

Causal discovery, the task of inferring causal structure from data, has the potential to uncover mechanistic insights from biological experiments, especially those involving perturbations. However, causal discovery algorithms over larger…

Machine Learning · Computer Science 2025-04-01 Menghua Wu , Yujia Bao , Regina Barzilay , Tommi Jaakkola

Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments.…

Machine Learning · Computer Science 2016-09-15 Kerstin Bunte , Eemeli Leppäaho , Inka Saarinen , Samuel Kaski

Emerging single-cell technologies that integrate CRISPR-based genetic perturbations with single-cell RNA sequencing, such as Perturb-seq, have substantially advanced our understanding of gene regulation and causal influence of genes. While…

Methodology · Statistics 2026-02-03 Kwangmoon Park , Hongzhe Li

Causal discovery methods aim to determine the causal direction between variables using observational data. Functional causal discovery methods, such as those based on the Linear Non-Gaussian Acyclic Model (LiNGAM), rely on structural and…

Methodology · Statistics 2024-09-27 Shreya Prakash , Fan Xia , Elena Erosheva

Detecting latent confounders from proxy variables is an essential problem in causal effect estimation. Previous approaches are limited to low-dimensional proxies, sorted proxies, and binary treatments. We remove these assumptions and…

Machine Learning · Statistics 2024-03-22 Nathan Mankovich , Homer Durand , Emiliano Diaz , Gherardo Varando , Gustau Camps-Valls

Approaches for testing sets of variants, such as a set of rare or common variants within a gene or pathway, for association with complex traits are important. In particular, set tests allow for aggregation of weak signal within a set, can…

Genomics · Quantitative Biology 2013-05-28 Jennifer Listgarten , Christoph Lippert , Eun Yong Kang , Jing Xiang , Carl M. Kadie , David Heckerman

Gene regulatory network inference (GRNI) aims to discover how genes causally regulate each other from gene expression data. It is well-known that statistical dependencies in observed data do not necessarily imply causation, as spurious…

Machine Learning · Computer Science 2025-11-05 Gongxu Luo , Haoyue Dai , Loka Li , Chengqian Gao , Boyang Sun , Kun Zhang

Counterfactual learning has become promising for understanding and modeling causality in complex and dynamic systems. This paper presents a novel method for counterfactual learning in the context of multivariate time series analysis and…

Machine Learning · Computer Science 2026-03-03 Gianlucca Zuin , Adriano Veloso

The discovery of discriminatory bias in human or automated decision making is a task of increasing importance and difficulty, exacerbated by the pervasive use of machine learning and data mining. Currently, discrimination discovery largely…

Computers and Society · Computer Science 2019-11-05 Bilal Qureshi , Faisal Kamiran , Asim Karim , Salvatore Ruggieri , Dino Pedreschi

Genome-wide experiments to map the DNA-binding locations of transcription-associated factors (TFs) have shown that the number of genes bound by a TF far exceeds the number of possible direct target genes. Distinguishing functional from…

Genomics · Quantitative Biology 2022-11-29 Christopher J. Banks , Anagha Joshi , Tom Michoel

Inferring causal relationships from observational data is rarely straightforward, but the problem is especially difficult in high dimensions. For these applications, causal discovery algorithms typically require parametric restrictions or…

Methodology · Statistics 2022-06-29 David S. Watson , Ricardo Silva
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