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Understanding disease similarity is critical for advancing diagnostics, drug discovery, and personalized treatment strategies. We present PhenoGnet, a novel graph-based contrastive learning framework designed to predict disease similarity…

Genomics · Quantitative Biology 2025-09-18 Ranga Baminiwatte , Kazi Jewel Rana , Aaron J. Masino

Diabetes is a chronic metabolic disorder characterized by elevated blood glucose levels due to impaired insulin production or function. Two main forms are recognized: type 1 diabetes (T1D), which involves autoimmune destruction of…

Genomics · Quantitative Biology 2026-02-11 Maria De La Luz Lomboy Toledo , Daniel Onah

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

The imaging community has increasingly adopted machine learning (ML) methods to provide individualized imaging signatures related to disease diagnosis, prognosis, and response to treatment. Clinical neuroscience and cancer imaging have been…

With the advance of experimental techniques such as time-lapse fluorescence microscopy, the availability of single-cell trajectory data has vastly increased, and so has the demand for computational methods suitable for parameter inference…

Quantitative Methods · Quantitative Biology 2016-07-06 Irena Kuzmanovska , Andreas Milias-Argeitis , Christoph Zechner , Mustafa Khammash

Metabolic heterogeneity is widely recognised as the next challenge in our understanding of non-genetic variation. A growing body of evidence suggests that metabolic heterogeneity may result from the inherent stochasticity of intracellular…

Molecular Networks · Quantitative Biology 2020-10-08 Mona K Tonn , Philipp Thomas , Mauricio Barahona , Diego A Oyarzún

Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised…

Genomics · Quantitative Biology 2026-04-27 Shanshan Ren , Thomas E. Bartlett , Lina Gerontogianni , Swati Chandna

Recent developments in high throughput profiling of individual neurons have spurred data driven exploration of the idea that there exist natural groupings of neurons referred to as cell types. The promise of this idea is that the immense…

Neurons and Cognition · Quantitative Biology 2019-11-14 Rohan Gala , Nathan Gouwens , Zizhen Yao , Agata Budzillo , Osnat Penn , Bosiljka Tasic , Gabe Murphy , Hongkui Zeng , Uygar Sümbül

Heterogeneity is a hallmark of complex diseases. Regression-based heterogeneity analysis, which is directly concerned with outcome-feature relationships, has led to a deeper understanding of disease biology. Such an analysis identifies the…

Methodology · Statistics 2022-11-29 Ziye Luo , Xinyue Yao , Yifan Sun , Xinyan Fan

Signet ring cell carcinoma is a type of rare adenocarcinoma with poor prognosis. Early detection leads to huge improvement of patients' survival rate. However, pathologists can only visually detect signet ring cells under the microscope.…

Computer Vision and Pattern Recognition · Computer Science 2019-07-10 Jiahui Li , Shuang Yang , Xiaodi Huang , Qian Da , Xiaoqun Yang , Zhiqiang Hu , Qi Duan , Chaofu Wang , Hongsheng Li

Chronic diseases are long-lasting conditions that require lifelong medical attention. Using big EMR data, we have developed early disease risk prediction models for five common chronic diseases: diabetes, hypertension, CKD, COPD, and…

Machine Learning · Computer Science 2026-03-13 Shaheer Ahmad Khan , Muhammad Usamah Shahid , Muddassar Farooq

This paper addresses patient heterogeneity associated with prediction problems in biomedical applications. We propose a systematic hypothesis testing approach to determine the existence of patient subgroup structure and the number of…

Methodology · Statistics 2021-01-08 Xu Gao , Weining Shen , Jing Ning , Ziding Feng , Jianhua Hu

Despite fluorescent cell-labelling being widely employed in biomedical studies, some of its drawbacks are inevitable, with unsuitable fluorescent probes or probes inducing a functional change being the main limitations. Consequently, the…

Quantitative Methods · Quantitative Biology 2020-03-03 Yan Ge , Philipp Rosendahl , Claudio Durán , Nicole Töpfner , Sara Ciucci , Jochen Guck , Carlo Vittorio Cannistraci

Cell type identification from single-cell transcriptomic data is a common goal of single-cell RNA sequencing (scRNAseq) data analysis. Neural networks have been employed to identify cell types from scRNAseq data with high performance.…

Genomics · Quantitative Biology 2020-05-11 Xishuang Dong , Shanta Chowdhury , Uboho Victor , Xiangfang Li , Lijun Qian

Phenotypic variation is a hallmark of cellular physiology. Metabolic heterogeneity, in particular, underpins single-cell phenomena such as microbial drug tolerance and growth variability. Much research has focussed on transcriptomic and…

Molecular Networks · Quantitative Biology 2019-01-31 Mona K. Tonn , Philipp Thomas , Mauricio Barahona , Diego A Oyarzún

Models have been proposed to extract temporal patterns from longitudinal electronic health records (EHR) for clinical predictive models. However, the common relations among patients (e.g., receiving the same medical treatments) were rarely…

Applications · Statistics 2019-09-27 Yue Wang , Tong Wu , Yunlong Wang , Gao Wang

Single-cell trajectory analysis aims to reconstruct the biological developmental processes of cells as they evolve over time, leveraging temporal correlations in gene expression. During cellular development, gene expression patterns…

Applications · Statistics 2026-03-30 Junhao Zhu , Kevin Zhang , Zhaolei Zhang , Dehan Kong

For over two decades, image-based profiling has revolutionized cell phenotype analysis. Image-based profiling processes rich, high-throughput, microscopy data into thousands of unbiased measurements that reveal phenotypic patterns powerful…

Single-cell reference atlases are large-scale, cell-level maps that capture cellular heterogeneity within an organ using single cell genomics. Given their size and cellular diversity, these atlases serve as high-quality training data for…

Genomics · Quantitative Biology 2022-11-09 Jan Engelmann , Leon Hetzel , Giovanni Palla , Lisa Sikkema , Malte Luecken , Fabian Theis

The application of single-cell molecular profiling coupled with spatial technologies has enabled charting cellular heterogeneity in reference tissues and in disease. This new wave of molecular data has highlighted the expected diversity of…

Tissues and Organs · Quantitative Biology 2024-03-12 Ricardo Omar Ramirez Flores , Philipp Sven Lars Schäfer , Leonie Küchenhoff , Julio Saez-Rodriguez