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Tumor heterogeneity is a challenge to designing effective and targeted therapies. Glioma-type identification depends on specific molecular and histological features, which are defined by the official WHO classification CNS. These guidelines…

Applications · Statistics 2023-05-23 Roberta Coletti , Mónica L. Mendonça , Susana Vinga , Marta B. Lopes

Recent breakthroughs in cancer research have come via the up-and-coming field of pathway analysis. By applying statistical methods to prior known gene and protein regulatory information, pathway analysis provides a meaningful way to…

Genomics · Quantitative Biology 2017-10-11 Yue Zhao

Advance in medical imaging is an important part in deep learning research. One of the goals of computer vision is development of a holistic, comprehensive model which can identify tumors from histology slides obtained via biopsies. A major…

Image and Video Processing · Electrical Eng. & Systems 2024-12-18 Vidit Gautam

Pan-cancer classification using transcriptomic (RNA-Seq) data can inform tumor subtyping and therapy selection, but is challenging due to extremely high dimensionality and limited sample sizes. In this study, we propose a novel deep…

Genomics · Quantitative Biology 2025-08-06 Vinil Polepalli

Deconvolution of cell mixtures in "bulk" transcriptomic samples from homogenate human tissue is important for understanding the pathologies of diseases. However, several experimental and computational challenges remain in developing and…

Other Quantitative Biology · Quantitative Biology 2023-05-12 Sean K. Maden , Sang Ho Kwon , Louise A. Huuki-Myers , Leonardo Collado-Torres , Stephanie C. Hicks , Kristen R. Maynard

Many common diseases have a complex genetic basis in which large numbers of genetic variations combine with environmental and lifestyle factors to determine risk. However, quantifying such polygenic effects and their relationship to disease…

Several modern genomic technologies, such as DNA-Methylation arrays, measure spatially registered probes that number in the hundreds of thousands across multiplechromosomes. The measured probes are by themselves less interesting…

Applications · Statistics 2016-11-16 John Nagorski , Genevera I. Allen

Computational complexity is a key limitation of genomic analyses. Thus, over the last 30 years, researchers have proposed numerous fast heuristic methods that provide computational relief. Comparing genomic sequences is one of the most…

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

Linear shrinkage estimators of a covariance matrix --- defined by a weighted average of the sample covariance matrix and a pre-specified shrinkage target matrix --- are popular when analysing high-throughput molecular data. However, their…

Methodology · Statistics 2018-09-24 Harry Gray , Gwenaël G. R. Leday , Catalina A. Vallejos , Sylvia Richardson

Dimensionality reduction methods are employed to decrease data dimensionality, either to enhance machine learning performance or to facilitate data visualization in two or three-dimensional spaces. These methods typically fall into two…

Machine Learning · Computer Science 2025-08-26 Berat Dogan

Finding tumour genetic markers is essential to biomedicine due to their relevance for cancer detection and therapy development. In this paper, we explore a recently released dataset of chromosome rearrangements in 2,586 cancer patients,…

Molecular subtypes of colorectal cancer (CRC) significantly influence treatment decisions. While convolutional neural networks (CNNs) have recently been introduced for automated CRC subtype identification using H&E stained histopathological…

Computer Vision and Pattern Recognition · Computer Science 2024-09-13 Hadar Hezi , Daniel Shats , Daniel Gurevich , Yosef E. Maruvka , Moti Freiman

Recently, a new form of magnetic resonance imaging (MRI) called synthetic correlated diffusion (CDI$^s$) imaging was introduced and showed considerable promise for clinical decision support for cancers such as prostate cancer when compared…

Image and Video Processing · Electrical Eng. & Systems 2023-04-13 Chi-en Amy Tai , Hayden Gunraj , Alexander Wong

The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and…

International initiatives such as METABRIC (Molecular Taxonomy of Breast Cancer International Consortium) have collected several multigenomic and clinical data sets to identify the undergoing molecular processes taking place throughout the…

Machine Learning · Computer Science 2022-11-29 Teodora Reu

We describe a software toolbox for the configuration of deep neural networks in the domain of skin cancer classification. The implemented software architecture allows developers to quickly set up new convolutional neural network (CNN)…

Image and Video Processing · Electrical Eng. & Systems 2019-08-23 Fabrizio Nunnari , Daniel Sonntag

Computational biomarkers (CBs) are histopathology-derived patterns extracted from hematoxylin-eosin (H&E) whole-slide images (WSIs) using artificial intelligence (AI) to predict therapeutic response or prognosis. Recently, slide-level…

Multiplexed imaging data are revolutionizing our understanding of the composition and organization of tissues and tumors. A critical aspect of such tissue profiling is quantifying the spatial relationship relationships among cells at…

Quantitative Methods · Quantitative Biology 2024-05-06 Ajit J. Nirmal , Peter K. Sorger

Gene expression can be used to subtype breast cancer with improved prediction of risk of recurrence and treatment responsiveness over that obtained using routine immunohistochemistry (IHC). However, in the clinic, molecular profiling is…

Computer Vision and Pattern Recognition · Computer Science 2023-05-09 Raktim Kumar Mondol , Ewan K. A. Millar , Peter H Graham , Lois Browne , Arcot Sowmya , Erik Meijering
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