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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

Causal discovery aims to infer causal relationships among variables from observational data, typically represented by a directed acyclic graph (DAG). Most existing methods assume independent and identically distributed observations, an…

Methodology · Statistics 2026-03-27 Alex Chen , Qing Zhou

This article presents a novel method for causal discovery with generalized structural equation models suited for analyzing diverse types of outcomes, including discrete, continuous, and mixed data. Causal discovery often faces challenges…

Methodology · Statistics 2023-10-26 Minjie Wang , Xiaotong Shen , Wei Pan

The mainstream of research in genetics, epigenetics and imaging data analysis focuses on statistical association or exploring statistical dependence between variables. Despite their significant progresses in genetic research, understanding…

Genomics · Quantitative Biology 2018-05-14 Rong Jiao , Nan Lin , Zixin Hu , David A Bennett , Li Jin , Momiao Xiong

Many natural phenomena are intrinsically causal. The discovery of the cause-effect relationships implicit in these processes can help us to understand and describe them more effectively, which boils down to causal discovery about the data…

Quantitative Methods · Quantitative Biology 2024-01-09 Jean Pierre Gomez

Causal discovery from observational data is challenging, especially with large datasets and complex relationships. Traditional methods often struggle with scalability and capturing global structural information. To overcome these…

Machine Learning · Computer Science 2025-07-29 Rezaur Rashid , Gabriel Terejanu

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

A very important topic in systems biology is developing statistical methods that automatically find causal relations in gene regulatory networks with no prior knowledge of causal connectivity. Many methods have been developed for time…

Machine Learning · Statistics 2012-08-22 Shohei Shimizu

We introduce a method to rigorously draw causal inferences---inferences immune to all possible confounding---from genetic data that include parents and offspring. Causal conclusions are possible with these data because the natural…

Methodology · Statistics 2024-03-12 Stephen Bates , Matteo Sesia , Chiara Sabatti , Emmanuel Candes

The aim in many sciences is to understand the mechanisms that underlie the observed distribution of variables, starting from a set of initial hypotheses. Causal discovery allows us to infer mechanisms as sets of cause and effect…

Machine Learning · Computer Science 2025-03-05 Ashka Shah , Adela DePavia , Nathaniel Hudson , Ian Foster , Rick Stevens

Advances in single-cell omics allow for unprecedented insights into the transcription profiles of individual cells. When combined with large-scale perturbation screens, through which specific biological mechanisms can be targeted, these…

Machine Learning · Computer Science 2023-10-24 Alejandro Tejada-Lapuerta , Paul Bertin , Stefan Bauer , Hananeh Aliee , Yoshua Bengio , Fabian J. Theis

Causal discovery of genome-scale networks is important for identifying pathways from genes to observable traits - e.g. differences in cell function, disease, drug resistance and others. Causal learners based on graphical models rely on…

Molecular Networks · Quantitative Biology 2023-04-07 Ashka Shah , Arvind Ramanathan , Valerie Hayot-Sasson , Rick Stevens

Causal discovery is a difficult problem that typically relies on strong assumptions on the data-generating model, such as non-Gaussianity. In practice, many modern applications provide multiple related views of the same system, which has…

Machine Learning · Computer Science 2025-09-29 Ambroise Heurtebise , Omar Chehab , Pierre Ablin , Alexandre Gramfort , Aapo Hyvärinen

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in…

Machine Learning · Statistics 2017-10-31 Dustin Tran , David M. Blei

Gene regulatory networks play a crucial role in controlling an organism's biological processes, which is why there is significant interest in developing computational methods that are able to extract their structure from high-throughput…

Machine Learning · Statistics 2018-09-19 Ioan Gabriel Bucur , Tom van Bussel , Tom Claassen , Tom Heskes

Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic…

Applications · Statistics 2010-10-08 Elias Chaibub Neto , Mark P. Keller , Alan D. Attie , Brian S. Yandell

Despite the wealth of single-cell multi-omics data, it remains challenging to predict the consequences of novel genetic and chemical perturbations in the human body. It requires knowledge of molecular interactions at all biological levels,…

Artificial Intelligence · Computer Science 2025-01-22 You Wu , Lei Xie

Causal discovery from observational and interventional data is challenging due to limited data and non-identifiability: factors that introduce uncertainty in estimating the underlying structural causal model (SCM). Selecting experiments…

Machine Learning · Computer Science 2022-10-24 Panagiotis Tigas , Yashas Annadani , Andrew Jesson , Bernhard Schölkopf , Yarin Gal , Stefan Bauer

With the increasing availability and size of multi-omics datasets, investigating the casual relationships between molecular phenotypes has become an important aspect of exploring underlying biology and genetics. This paper aims to introduce…

Molecular Networks · Quantitative Biology 2022-01-31 Jack Kelly , Carlo Berzuini , Bernard Keavney , Maciej Tomaszewski , Hui Guo

Summary statistics of genome-wide association studies (GWAS) teach causal relationship between millions of genetic markers and tens and thousands of phenotypes. However, underlying biological mechanisms are yet to be elucidated. We can…

Machine Learning · Statistics 2019-01-25 Yongjin Park , Abhishek Sarkar , Khoi Nguyen , Manolis Kellis
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