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The complexity of modern electro-mechanical systems require the development of sophisticated diagnostic methods like anomaly detection capable of detecting deviations. Conventional anomaly detection approaches like signal processing and…

Machine Learning · Computer Science 2025-01-07 Abhishek Srinivasan , Varun Singapuri Ravi , Juan Carlos Andresen , Anders Holst

Detecting anomalies in large, distributed systems presents several challenges. The first challenge arises from the sheer volume of data that needs to be processed. Flagging anomalies in a high-throughput environment calls for a careful…

Machine Learning · Computer Science 2025-10-07 Anupam Panwar , Himadri Pal , Jiali Chen , Kyle Cho , Riddick Jiang , Miao Zhao , Rajiv Krishnamurthy

Single-cell analysis is currently one of the most high-resolution techniques to study biology. The large complex datasets that have been generated have spurred numerous developments in computational biology, in particular the use of…

Genomics · Quantitative Biology 2023-04-27 Ionut Sebastian Mihai , Sarang Chafle , Johan Henriksson

Single-cell perturbation modeling is fundamental for understanding and predicting cellular responses to genetic perturbations. However, existing approaches, from causal representation learning to foundation models, often struggle with an…

Machine Learning · Computer Science 2026-05-20 Wenkang Jiang , Yuhang Liu , Yichao Cai , Erdun Gao , Jiayi Dong , Ehsan Abbasnejad , Lina Yao , Javen Qinfeng Shi

Single-cell RNA sequencing (scRNA-seq) frameworks lack explainable approaches for identifying cell subpopulations harboring strong pairwise monotonic gene-module relationships between a gene of interest (GOI) and its co-expressed genes.…

Genomics · Quantitative Biology 2026-05-05 Kah Keng Wong

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

PCA is a classical statistical technique whose simplicity and maturity has seen it find widespread use as an anomaly detection technique. However, it is limited in this regard by being sensitive to gross perturbations of the input, and by…

Machine Learning · Computer Science 2017-08-01 Raghavendra Chalapathy , Aditya Krishna Menon , Sanjay Chawla

We present a systematic evaluation framework - thirty-seven analyses, 153 statistical tests, four cell types, two perturbation modalities - for assessing mechanistic interpretability in single-cell foundation models. Applying this framework…

Genomics · Quantitative Biology 2026-02-20 Ihor Kendiukhov

Motivation: Although principal component analysis is frequently applied to reduce the dimensionality of matrix data, the method is sensitive to noise and bias and has difficulty with comparability and interpretation. These issues are…

Methodology · Statistics 2012-12-27 Tomokazu Konishi

Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

Single-cell RNA sequencing (scRNA-seq) data exhibit strong and reproducible statistical structure. This has motivated the development of large-scale foundation models, such as TranscriptFormer, that use transformer-based architectures to…

Genomics · Quantitative Biology 2026-02-19 Huan Souza , Pankaj Mehta

Principal Components Analysis (PCA) is a common way to study the sources of variation in a high-dimensional data set. Typically, the leading principal components are used to understand the variation in the data or to reduce the dimension of…

Principal Component Analysis (PCA) has been used to study the pathogenesis of diseases. To enhance the interpretability of classical PCA, various improved PCA methods have been proposed to date. Among these, a typical method is the…

Machine Learning · Computer Science 2019-05-29 Chun-Mei Feng , Yong Xu , Jin-Xing Liu , Ying-Lian Gao , Chun-Hou Zheng

Single-cell transcriptomics enabled the study of cellular heterogeneity in response to perturbations at the resolution of individual cells. However, scaling high-throughput screens (HTSs) to measure cellular responses for many drugs remains…

Machine Learning · Computer Science 2023-01-03 Leon Hetzel , Simon Böhm , Niki Kilbertus , Stephan Günnemann , Mohammad Lotfollahi , Fabian Theis

Cellular phenotypes are determined by the dynamical activity of networks of co-regulated genes. Elucidating such networks is crucial for the understanding of normal cell physiology as well as for the dissection of complex pathologic…

Molecular Networks · Quantitative Biology 2007-05-23 Kai Wang , Nilanjana Banerjee , Adam Margolin , Ilya Nemenman , Katia Basso , Riccardo Favera , Andrea Califano

Principal component analysis (PCA) is a tool to capture factors that explain variation in data. Across domains, data are now collected across multiple contexts (for example, individuals with different diseases, cells of different types, or…

Machine Learning · Statistics 2026-01-22 Kexin Wang , Salil Bhate , João M. Pereira , Joe Kileel , Matylda Figlerowicz , Anna Seigal

Anomalies are ubiquitous in all scientific fields and can express an unexpected event due to incomplete knowledge about the data distribution or an unknown process that suddenly comes into play and distorts observations. Due to such events'…

Computer Vision and Pattern Recognition · Computer Science 2021-12-14 Fabio Valerio Massoli , Fabrizio Falchi , Alperen Kantarci , Şeymanur Akti , Hazim Kemal Ekenel , Giuseppe Amato

Cell heterogeneity and the inherent complexity due to the interplay of multiple molecular processes within the cell pose difficult challenges for current single-cell biology. We introduce an approach that identifies a disease phenotype from…

Extracting an understanding of the underlying system from high dimensional data is a growing problem in science. Discovering informative and meaningful features is crucial for clustering, classification, and low dimensional data embedding.…

Machine Learning · Statistics 2019-12-10 Samuel Melton , Sharad Ramanathan

Diagnosing hematological malignancies requires identification and classification of white blood cells in peripheral blood smears. Domain shifts caused by different lab procedures, staining, illumination, and microscope settings hamper the…

Computer Vision and Pattern Recognition · Computer Science 2022-07-04 Raheleh Salehi , Ario Sadafi , Armin Gruber , Peter Lienemann , Nassir Navab , Shadi Albarqouni , Carsten Marr