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Current efforts in the biomedical sciences and related interdisciplinary fields are focused on gaining a molecular understanding of health and disease, which is a problem of daunting complexity that spans many orders of magnitude in…

Quantitative Methods · Quantitative Biology 2014-01-24 Julián Candia , Jayanth R. Banavar , Wolfgang Losert

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

Modern single-cell flow and mass cytometry technologies measure the expression of several proteins of the individual cells within a blood or tissue sample. Each profiled biological sample is thus represented by a set of hundreds of…

Machine Learning · Computer Science 2022-06-29 Siyuan Shan , Vishal Baskaran , Haidong Yi , Jolene Ranek , Natalie Stanley , Junier Oliva

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from…

Quantitative Methods · Quantitative Biology 2025-04-21 Jie Song , Mengqiao He , Shumin Ren , Bairong Shen

Many pressing medical challenges - such as diagnosing disease, enhancing directed stem cell differentiation, and classifying cancers - have long been hindered by limitations in our ability to quantify proteins in single cells.…

Genomics · Quantitative Biology 2018-08-06 Harrison Specht , Nikolai Slavov

Identifying subtle phenotypic variations in cellular images is critical for advancing biological research and accelerating drug discovery. These variations are often masked by the inherent cellular heterogeneity, making it challenging to…

Computer Vision and Pattern Recognition · Computer Science 2026-01-28 Anis Bourou , Biel Castaño Segade , Thomas Boyer , Valérie Mezger , Auguste Genovesio

We introduce a machine learning-based method for fully automated diagnosis of sickle cell disease of poor-quality unstained images of a mobile microscope. Our method is capable of distinguishing between diseased, trait (carrier), and normal…

Computer Vision and Pattern Recognition · Computer Science 2021-03-31 Sahar A. Nasser , Debjani Paul , Suyash P. Awate

Current machine learning has made great progress on computer vision and many other fields attributed to the large amount of high-quality training samples, while it does not work very well on genomic data analysis, since they are notoriously…

Machine Learning · Computer Science 2020-09-04 Ziyi Yang , Jun Shu , Yong Liang , Deyu Meng , Zongben Xu

Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model…

Quantitative Methods · Quantitative Biology 2015-05-26 Robert Hoehndorf , Paul N Schofield , Georgios V Gkoutos

Background: Single-cell RNA sequencing (scRNA-seq) yields valuable insights about gene expression and gives critical information about complex tissue cellular composition. In the analysis of single-cell RNA sequencing, the annotations of…

Genomics · Quantitative Biology 2023-03-29 Xiaowen Cao , Li Xing , Elham Majd , Hua He , Junhua Gu , Xuekui Zhang

Cellular heterogeneity is important to biological processes, including cancer and development. However, proteome heterogeneity is largely unexplored because of the limitations of existing methods for quantifying protein levels in single…

Genomics · Quantitative Biology 2018-10-29 Bogdan Budnik , Ezra Levy , Guillaume Harmange , Nikolai Slavov

Phenotypic heterogeneity is a most fascinating property of a population of cells, which shows the differences among individuals even with the same genetic background and extracellular environmental conditions. However, the lack of…

Quantitative Methods · Quantitative Biology 2020-10-08 Huibao Feng , Chong Zhang

The relationship between microscopic observations and macroscopic behavior is a fundamental open question in biophysical systems. Here, we develop a unified approach that---in contrast with existing methods---predicts cell type from…

Genomics · Quantitative Biology 2020-03-31 Thomas P. Wytock , Adilson E. Motter

Aging is a highly complex and heterogeneous process that progresses at different rates across individuals, making biological age (BA) a more accurate indicator of physiological decline than chronological age. While previous studies have…

Genomics · Quantitative Biology 2025-10-24 Huifa Li , Feilong Tang , Haochen Xue , Yulong Li , Xinlin Zhuang , Bin Zhang , Eran Segal , Imran Razzak

Blood cell classification and counting are vital for the diagnosis of various blood-related diseases, such as anemia, leukemia, and thrombocytopenia. The manual process of blood cell classification and counting is time-consuming, prone to…

Image and Video Processing · Electrical Eng. & Systems 2024-05-27 Sohag Kumar Mondal , Md. Simul Hasan Talukder , Mohammad Aljaidi , Rejwan Bin Sulaiman , Md Mohiuddin Sarker Tushar , Amjad A Alsuwaylimi

Biomedical imaging and RNA sequencing with single-cell resolution improves our understanding of white blood cell diseases like leukemia. By combining morphological and transcriptomic data, we can gain insights into cellular functions and…

Computer Vision and Pattern Recognition · Computer Science 2024-08-26 Gizem Mert , Ario Sadafi , Raheleh Salehi , Nassir Navab , Carsten Marr

Cell type (e.g. pluripotent cell, fibroblast) is the end result of many complex processes that unfold due to evolutionary, developmental, and transformational stimuli. A cell's phenotype and the discrete, a priori states that define various…

Quantitative Methods · Quantitative Biology 2013-02-05 Bradly Alicea

Digital pathology has seen the advent of a wealth of foundational models (FM), yet to date their performance on cell phenotyping has not been benchmarked in a unified manner. We therefore propose PhenoBench: A comprehensive benchmark for…

Understanding the biological mechanisms of disease is crucial for medicine, and in particular, for drug discovery. AI-powered analysis of genome-scale biological data holds great potential in this regard. The increasing availability of…

Label-free single-cell imaging offers a scalable, non-invasive alternative to fluorescence-based cytometry, yet inferring molecular phenotypes directly from bright-field morphology remains challenging. We present a unified Deep Learning…

Computer Vision and Pattern Recognition · Computer Science 2026-05-15 Saqib Nazir , Ardhendu Behera
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