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Related papers: HetFHMM: A novel approach to infer tumor heterogen…

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The fast and affordable sequencing of large clinical and environmental metagenomic datasets opens up new horizons in medical and biotechnological applications. It is believed that today we have described only about 1\% of the microorganisms…

Genomics · Quantitative Biology 2017-10-31 Balazs Szalkai , Vince Grolmusz

Explicit accounting for copy number alterations can dramatically improve mutation frequency estimates, leading to more accurate phylogeny reconstructions and subclone characterizations.

Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the…

Genomics · Quantitative Biology 2024-06-18 Teddy Lazebnik , Liron Simon-Keren

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

We propose a novel computational framework leveraging hypergraph theory to analyse cancer stem cell markers (CSCMs) across multiple organs. Hypergraphs provide a robust representation of CSCM co-expression patterns, capturing their complex…

Biological Physics · Physics 2025-08-01 David H. Margarit , Gustavo Paccosi , Marcela V. Reale , Lilia M. Romanelli

Revealing the clonal composition of a single tumor is essential for identifying cell subpopulations with metastatic potential in primary tumors or with resistance to therapies in metastatic tumors. Sequencing technologies provide an…

Genomics · Quantitative Biology 2014-02-07 Francesco Strino , Fabio Parisi , Mariann Micsinai , Yuval Kluger

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

Molecular phenotyping is central in cancer precision medicine, but remains costly and standard methods only provide a tumour average profile. Microscopic morphological patterns observable in histopathology sections from tumours are…

Image and Video Processing · Electrical Eng. & Systems 2020-09-21 Yinxi Wang , Kimmo Kartasalo , Masi Valkonen , Christer Larsson , Pekka Ruusuvuori , Johan Hartman , Mattias Rantalainen

We present TreeClone, a latent feature allocation model to reconstruct tumor subclones subject to phylogenetic evolution that mimics tumor evolution. Similar to most current methods, we consider data from next-generation sequencing of tumor…

Applications · Statistics 2017-10-26 Tianjian Zhou , Subhajit Sengupta , Peter Mueller , Yuan Ji

Cancer is a genetic disorder whose clonal evolution can be monitored by tracking noisy genome-wide copy number variants. We introduce the Copy Number Stochastic Block Model (CN-SBM), a probabilistic framework that jointly clusters samples…

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

Intercellular heterogeneity serves as both a confounding factor in studying individual clones and an information source in characterizing any heterogeneous tissues, such as blood, tumor systems. Due to inevitable sequencing errors and other…

Genomics · Quantitative Biology 2014-09-30 Guoqiang Yu , Roger R. Wang , Sean S. Wang , Niya Wang , Yue Wang

Tumour heterogeneity is increasingly recognized as a major obstacle to therapeutic success across neuro-oncology. Gliomas are characterised by distinct combinations of genetic and epigenetic alterations, resulting in complex interactions…

Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor…

Machine Learning · Computer Science 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

Intratumor heterogeneity (ITH), referring to coexistence of different cell subpopulations in a single tumor, has been a major puzzle in cancer research for almost half a century. The lack of understanding of the underlying mechanism of ITH…

Populations and Evolution · Quantitative Biology 2019-02-22 Xin Li , D. Thirumalai

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

We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types. A majority of cancer types exhibit…

Genomics · Quantitative Biology 2017-08-16 Zura Kakushadze , Willie Yu

The detection of change-points in heterogeneous sequences is a statistical challenge with many applications in fields such as finance, signal analysis and biology. A wide variety of literature exists for finding an ideal set of…

Applications · Statistics 2012-12-11 The Minh Luong , Vittorio Perduca , Gregory Nuel

Motivation: Epigenetic heterogeneity within a tumour can play an important role in tumour evolution and the emergence of resistance to treatment. It is increasingly recognised that the study of DNA methylation (DNAm) patterns along the…

Quantitative Methods · Quantitative Biology 2017-02-21 James E. Barrett , Andrew Feber , Javier Herrero , Miljana Tanic , Gareth Wilson , Charles Swanton , Stephan Beck

Development of resistance limits efficiency of present anticancer therapies and preventing it remains big challenge in cancer research. It is accepted, at intuitive level, that the resistance emerges as a consequence of cancer cells…

Quantitative Methods · Quantitative Biology 2015-06-02 Branislav Brutovsky , Denis Horvath