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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

The majority of cancer treatments end in failure due to Intra-Tumor Heterogeneity (ITH). ITH in cancer is represented by clonal evolution where different sub-clones compete with each other for resources under conditions of Darwinian natural…

Many types of tumors exhibit chromosomal losses or gains, as well as local amplifications and deletions. Within any given tumor type, sample specific amplifications and deletionsare also observed. Typically, a region that is aberrant in…

Genomics · Quantitative Biology 2008-12-10 Tal Shay , Wanyu L. Lambiv , Anat Reiner , Monika E. Hegi , Eytan Domany

Tumor heterogeneity is a complex and widely recognized trait that poses significant challenges in developing effective cancer therapies. In particular, many tumors harbor a variety of subpopulations with distinct therapeutic response…

Populations and Evolution · Quantitative Biology 2023-06-14 C. Wu , E. B. Gunnarsson , E. M. Myklebust , A. Köhn-Luque , D. S. Tadele , J. M. Enserink , A. Frigessi , J. Foo , K. Leder

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

Tumors often contain multiple subpopulations of cancerous cells defined by distinct somatic mutations. We describe a new method, PhyloWGS, that can be applied to WGS data from one or more tumor samples to reconstruct complete genotypes of…

Populations and Evolution · Quantitative Biology 2015-01-08 Amit G. Deshwar , Shankar Vembu , Christina K. Yung , Gun Ho Jang , Lincoln Stein , Quaid Morris

Advances in single-cell and spatial transcriptomic technologies have transformed tumor ecosystem profiling at cellular resolution. However, large scale studies on patient cohorts continue to rely on bulk transcriptomic data, where variation…

Machine Learning · Computer Science 2026-01-28 Zhiwei Zheng , Kevin Bryson

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

Background: Advances in high throughput sequencing technologies provide a huge number of genomes to be analyzed. Thus, computational methods play a crucial role in analyzing and extracting knowledge from the data generated. Investigating…

Despite initial success, cancer therapies often fail due to the emergence of drug-resistant cells. In this study, we use a mathematical model to investigate how cancer evolves over time, specifically focusing on the state of the tumor when…

Probability · Mathematics 2023-08-01 Kevin Leder , Zicheng Wang

Challenges of assessing complexity and clonality in populations of mixed species arise in diverse areas of modern biology, including estimating diversity and clonality in microbiome populations, measuring patterns of T and B cell clonality,…

Methodology · Statistics 2014-08-07 Yi Liu , Andrew Z. Fire , Scott Boyd , Richard A. Olshen

This study explores the use of graph neural networks (GNNs) with hierarchical pooling and multiple convolution layers for cancer classification based on RNA-seq data. We combine gene expression data from The Cancer Genome Atlas (TCGA) with…

Machine Learning · Computer Science 2026-01-13 Thomas Vaitses Fontanari , Mariana Recamonde-Mendoza

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

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

We present a nonparametric Bayesian method for disease subtype discovery in multi-dimensional cancer data. Our method can simultaneously analyse a wide range of data types, allowing for both agreement and disagreement between their…

Genomics · Quantitative Biology 2013-04-16 Richard S. Savage , Zoubin Ghahramani , Jim E. Griffin , Paul Kirk , David L. Wild

The ability of tumors to evolve and adapt by developing subclones in different genetic and epigenetic states is a major challenge in oncology. Traditional tools like multi-regional sequencing used to study tumor evolution and the resultant…

Recently, it has become feasible to generate large-scale, multi-tissue gene expression data, where expression profiles are obtained from multiple tissues or organs sampled from dozens to hundreds of individuals. When traditional clustering…

Quantitative Methods · Quantitative Biology 2021-10-29 Pau Erola , Johan LM Björkegren , Tom Michoel

A tumor often consists of multiple cell subpopulations (clones). Current chemo-treatments often target one clone of a tumor. Although the drug kills that clone, other clones overtake it and the tumor reoccurs. Genome sequencing and…

Molecular Networks · Quantitative Biology 2014-09-09 Edwin Wang , Jinfeng Zou , Naif Zaman , Lenore K. Beitel , Mark Trifiro , Miltiadis Paliouras

Cancer is responsible for millions of deaths worldwide every year. Although significant progress has been achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy. Appropriate cancer patient…

Machine Learning · Computer Science 2021-03-31 David Oniani , Chen Wang , Yiqing Zhao , Andrew Wen , Hongfang Liu , Feichen Shen

Pseudoprogression (PsP) is an imitation of true tumor progression (TTP) in patients with glioblastoma multiform (GBM). Differentiating them is a challenging and time-consuming task for radiologists. Although deep neural networks can…

Tissues and Organs · Quantitative Biology 2019-02-27 Xiaoming Liu , Michael D. Chan , Xiaobo Zhou , Xiaohua Qian