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Single-cell technologies have revolutionized biomedical research by enabling scalable measurement of the genome, transcriptome, and proteome of multiple systems at single-cell resolution. Now widely applied to cancer models, these assays…

Genomics · Quantitative Biology 2020-05-05 Allen W Zhang , Kieran R Campbell

Cancer and its subtypes constitute approximately 30% of all causes of death globally and display a wide range of heterogeneity in terms of clinical and molecular responses to therapy. Molecular subtyping has enabled the use of precision…

Quantitative Methods · Quantitative Biology 2024-07-11 Anwar Khan , Boreom Lee

The characterization of Tumor MicroEnvironment (TME) is challenging due to its complexity and heterogeneity. Relatively consistent TME characteristics embedded within highly specific tissue features, render them difficult to predict. The…

Computer Vision and Pattern Recognition · Computer Science 2024-07-09 Fangliangzi Meng , Hongrun Zhang , Ruodan Yan , Guohui Chuai , Chao Li , Qi Liu

Motivation: Driver (epi)genomic alterations underlie the positive selection of cancer subpopulations, which promotes drug resistance and relapse. Even though substantial heterogeneity is witnessed in most cancer types, mutation accumulation…

Cancer diagnosis, prognosis, and therapeutic response predictions are based on morphological information from histology slides and molecular profiles from genomic data. However, most deep learning-based objective outcome prediction and…

Computer Vision and Pattern Recognition · Computer Science 2020-09-04 Richard J. Chen , Ming Y. Lu , Jingwen Wang , Drew F. K. Williamson , Scott J. Rodig , Neal I. Lindeman , Faisal Mahmood

We present an applied study in cancer genomics for integrating data and inferences from laboratory experiments on cancer cell lines with observational data obtained from human breast cancer studies. The biological focus is on improving…

Applications · Statistics 2010-10-07 Daniel Merl , Julia Ling-Yu Chen , Jen-Tsan Chi , Mike West

We built a novel Bayesian hierarchical survival model based on the somatic mutation profile of patients across 50 genes and 27 cancer types. The pan-cancer quality allows for the model to "borrow" information across cancer types, motivated…

Quantitative Methods · Quantitative Biology 2019-10-09 Sarah Samorodnitsky , Katherine A. Hoadley , Eric F. Lock

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

We propose a statistical framework to integrate radiological magnetic resonance imaging (MRI) and genomic data to identify the underlying radiogenomic associations in lower grade gliomas (LGG). We devise a novel imaging phenotype by…

Over the past decades, statisticians and machine-learning researchers have developed literally thousands of new tools for the reduction of high-dimensional data in order to identify the variables most responsible for a particular trait.…

Machine Learning · Statistics 2012-05-31 Chamont Wang , Jana Gevertz , Chaur-Chin Chen , Leonardo Auslender

Variable selection for structured covariates lying on an underlying known graph is a problem motivated by practical applications, and has been a topic of increasing interest. However, most of the existing methods may not be scalable to high…

Methodology · Statistics 2016-04-27 Changgee Chang , Suprateek Kundu , Qi Long

Identifying the genes and mutations that drive the emergence of tumors is a major step to improve understanding of cancer and identify new directions for disease diagnosis and treatment. Despite the large volume of genomics data, the…

Machine Learning · Computer Science 2022-04-05 Renan Andrades , Mariana Recamonde-Mendoza

Tumor samples are heterogeneous. They consist of different subclones that are characterized by differences in DNA nucleotide sequences and copy numbers on multiple loci. Heterogeneity can be measured through the identification of the…

Methodology · Statistics 2014-09-26 Juhee Lee , Peter Mueller , Subhajit Sengupta , Kamalakar Gulukota , Yuan Ji

Machine Learning (ML) alleviates the challenges of high-dimensional data analysis and improves decision making in critical applications like healthcare. Effective cancer type from high-dimensional genetic mutation data can be useful for…

Cryptography and Security · Computer Science 2022-04-13 Esha Sarkar , Eduardo Chielle , Gamze Gursoy , Leo Chen , Mark Gerstein , Michail Maniatakos

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

Recent studies of cancer somatic mutation profiles seek to identify mutations for targeted therapy in personalized medicine. Analysis of profiles, however, is not trivial, as each profile is heterogeneous and there are multiple confounding…

Machine Learning · Statistics 2020-05-25 Rahul Mehta , Muge Karaman

The detection of genomic regions unusually rich in a given pattern is an important undertaking in the analysis of next generation sequencing data. Recent studies of chromosomal translocations in activated B lymphocytes have identified…

Genomics · Quantitative Biology 2022-02-03 Israel T. Silva , Rafael A. Rosales , Adriano J. Holanda , Michel C. Nussenzweig , Mila Jankovic

We develop a feature allocation model for inference on genetic tumor variation using next-generation sequencing data. Specifically, we record single nucleotide variants (SNVs) based on short reads mapped to human reference genome and…

Applications · Statistics 2015-09-15 Juhee Lee , Peter Müller , Kamalakar Gulukota , Yuan Ji

Recently, there has been a resurgence of interest in rigorous algorithms for the inference of cancer progression from genomic data. The motivations are manifold: (i) growing NGS and single cell data from cancer patients, (ii) need for novel…

Machine Learning · Computer Science 2016-02-25 Daniele Ramazzotti

Recent advances in cancer research largely rely on new developments in microscopic or molecular profiling techniques offering high level of detail with respect to either spatial or molecular features, but usually not both. Here, we present…