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Cancer cells evolve through random somatic mutations. "Beneficial" mutations which disrupt key pathways (e.g. cell cycle regulation) are subject to natural selection. Multiple mutations may lead to the same "beneficial" effect, in which…

Methodology · Statistics 2016-09-20 Paul Ginzberg , Federico Giorgi , Andrea Califano

Motivation: Standard genome-wide association studies in cancer genomics rely on statistical significance with multiple testing correction, but systematically fail in underpowered cohorts. In TCGA breast cancer (n=967, 133 deaths), low event…

Genomics · Quantitative Biology 2025-10-22 Gokturk Aytug Akarlar

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

Generative Adversarial Networks (GANs) are notoriously difficult to train especially for complex distributions and with limited data. This has driven the need for tools to audit trained networks in human intelligible format, for example, to…

Machine Learning · Computer Science 2023-05-03 Matthew L. Olson , Shusen Liu , Rushil Anirudh , Jayaraman J. Thiagarajan , Peer-Timo Bremer , Weng-Keen Wong

Many researches demonstrated that the DNA methylation, which occurs in the context of a CpG, has strong correlation with diseases, including cancer. There is a strong interest in analyzing the DNA methylation data to find how to distinguish…

Genomics · Quantitative Biology 2020-01-29 Hong Yu , Zhanyu Ma

A major task in genetic studies is to identify genes related to human diseases and traits to understand functional characteristics of genetic mutations and enhance patient diagnosis. Besides marginal analyses of individual genes,…

Methodology · Statistics 2021-11-09 Jin Jin , Yue Wang

There has been a lot of work fitting Ising models to multivariate binary data in order to understand the conditional dependency relationships between the variables. However, additional covariates are frequently recorded together with the…

Machine Learning · Statistics 2012-09-28 Jie Cheng , Elizaveta Levina , Pei Wang , Ji Zhu

A central goal in cancer genomics is to identify the somatic alterations that underpin tumor initiation and progression. This task is challenging as the mutational profiles of cancer genomes exhibit vast heterogeneity, with many alterations…

Genomics · Quantitative Biology 2017-04-28 Borislav H. Hristov , Mona Singh

Next-generation sequencing technologies now constitute a method of choice to measure gene expression. Data to analyze are read counts, commonly modeled using Negative Binomial distributions. A relevant issue associated with this…

Methodology · Statistics 2014-11-10 Elisabetta Bonafede , Franck Picard , Stéphane Robin , Cinzia Viroli

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

Quantitatively predicting phenotype variables by the expression changes in a set of candidate genes is of great interest in molecular biology but it is also a challenging task for several reasons. First, the collected biological…

Applications · Statistics 2017-07-21 Emilie Devijver , Mélina Gallopin , Emeline Perthame

Identifying driver genes is crucial for understanding oncogenesis and developing targeted cancer therapies. Driver discovery methods using protein or pathway networks rely on traditional network science measures, focusing on nodes, edges,…

Molecular Networks · Quantitative Biology 2024-10-01 Rodrigo Henrique Ramos , Yago Augusto Bardelotte , Cynthia de Oliveira Lage Ferreira , Adenilso Simao

Genomic instability, the propensity of aberrations in chromosomes, plays a critical role in the development of many diseases. High throughput genotyping experiments have been performed to study genomic instability in diseases. The output of…

Methodology · Statistics 2009-08-27 Pei Wang , Dennis L. Chao , Li Hsu

In order to analyze data from cancer genome sequencing projects, we need to be able to distinguish causative, or "driver," mutations from "passenger" mutations that have no selective effect. Toward this end, we prove results concerning the…

Populations and Evolution · Quantitative Biology 2013-02-13 Rick Durrett

In this dissertation, we develop nonparametric Bayesian models for biomedical data analysis. In particular, we focus on inference for tumor heterogeneity and inference for missing data. First, we present a Bayesian feature allocation model…

Applications · Statistics 2019-09-23 Tianjian Zhou

The expression levels of many thousands of genes can be measured simultaneously by DNA microarrays (chips). This novel experimental tool has revolutionized research in molecular biology and generated considerable excitement. A typical…

Biological Physics · Physics 2007-05-23 Eytan Domany

Sparse latent multi-factor models have been used in many exploratory and predictive problems with high-dimensional multivariate observations. Because of concerns with identifiability, the latent factors are almost always assumed to be…

Applications · Statistics 2013-12-09 Vinicius Diniz Mayrink , Joseph Edward Lucas

Accurate diagnostic tests are essential for effective screening and treatment. However, individual biomarkers often fail to provide sufficient diagnostic accuracy, as they typically capture only one aspect of the complex disease process.…

Methodology · Statistics 2025-07-08 Ainesh Sewak , Sandra Siegfried , Torsten Hothorn

Interactive visualization tools are highly desirable to biologist and cancer researchers to explore the complex structures, detect patterns and find out the relationships among bio-molecules responsible for a cancer type. A pathway contains…

Quantitative Methods · Quantitative Biology 2017-10-23 Vinh Nguyen , Md Yasin Kabir , Tommy Dang
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