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Accurate tumor classification is essential for selecting effective treatments, but current methods have limitations. Standard tumor grading, which categorizes tumors based on cell differentiation, is not recommended as a stand-alone…

Computer Vision and Pattern Recognition · Computer Science 2025-02-11 Marianne Abémgnigni Njifon , Tobias Weber , Viktor Bezborodov , Tyll Krueger , Dominic Schuhmacher

Breast cancer has long been a prominent cause of mortality among women. Diagnosis, therapy, and prognosis are now possible, thanks to the availability of RNA sequencing tools capable of recording gene expression data. Molecular subtyping…

Machine Learning · Computer Science 2021-11-11 Sheetal Rajpal , Virendra Kumar , Manoj Agarwal , Naveen Kumar

Clustering of proteins is of interest in cancer cell biology. This article proposes a hierarchical Bayesian model for protein (variable) clustering hinging on correlation structure. Starting from a multivariate normal likelihood, we enforce…

Computation · Statistics 2022-02-09 Riddhi Pratim Ghosh , Arnab Kumar Maity , Mohsen Pourahmadi , Bani K. Mallick

Targeted therapies on the basis of genomic aberrations analysis of the tumor have shown promising results in cancer prognosis and treatment. Regardless of tumor type, trials that match patients to targeted therapies for their particular…

Applications · Statistics 2018-04-18 Yanxun Xu , Peter Mueller , Apostolia M Tsimberidou , Donald Berry

Screening mammograms is the gold standard for detecting breast cancer early. While a good amount of work has been performed on mammography image classification, especially with deep neural networks, there has not been much exploration into…

Machine Learning · Computer Science 2020-08-14 Anika Tabassum , Naimul Khan

We analyze large, multi-dimensional, sparse counting data sets, finding unsupervised groups to provide unique insights into genetic data. We create gene and biological pathway groups based on patients' variants to find common risk factors…

Machine Learning · Computer Science 2025-09-01 Adam Sandler , Diego Klabjan , Yuan Luo

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

We consider comparisons of statistical learning algorithms using multiple data sets, via leave-one-in cross-study validation: each of the algorithms is trained on one data set; the resulting model is then validated on each remaining data…

Applications · Statistics 2015-06-02 Lorenzo Trippa , Levi Waldron , Curtis Huttenhower , Giovanni Parmigiani

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

Modern cancer genomics datasets involve widely varying sizes and scales, measurement variables, and correlation structures. A fundamental analytical goal in these high-throughput studies is the development of general statistical techniques…

Methodology · Statistics 2022-04-12 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

Heterogeneity is a hallmark of all cancers. Tumor heterogeneity is found at different levels -- interpatient, intrapatient, and intratumor heterogeneity. All of them pose challenges for clinical treatments. The latter two scenarios can also…

Soft Condensed Matter · Physics 2020-04-03 Xin Li , D. Thirumalai

Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-specific…

Methodology · Statistics 2024-09-05 Qicheng Zhao , Qihuang Zhang

DNA microarray technology enables the simultaneous measurement of expression levels of thousands of genes, thereby facilitating the understanding of the molecular mechanisms underlying complex diseases such as brain tumors and the…

Machine Learning · Computer Science 2025-08-29 Emine Akpinar , Batuhan Hangun , Murat Oduncuoglu , Oguz Altun , Onder Eyecioglu , Zeynel Yalcin

We perform differential expression analysis of high-throughput sequencing count data under a Bayesian nonparametric framework, removing sophisticated ad-hoc pre-processing steps commonly required in existing algorithms. We propose to use…

Applications · Statistics 2017-05-04 Siamak Zamani Dadaneh , Xiaoning Qian , Mingyuan Zhou

This paper presents a new modeling strategy for joint unsupervised analysis of multiple high-throughput biological studies. As in Multi-study Factor Analysis, our goals are to identify both common factors shared across studies and…

Applications · Statistics 2018-06-27 Roberta De Vito , Ruggero Bellio , Lorenzo Trippa , Giovanni Parmigiani

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

Variable selection is crucial in high-dimensional omics-based analyses, since it is biologically reasonable to assume only a subset of non-noisy features contributes to the data structures. However, the task is particularly hard in an…

Methodology · Statistics 2022-03-22 Emilie Eliseussen , Thomas Fleischer , Valeria Vitelli

Tumours develop in an evolutionary process, in which the accumulation of mutations produces subpopulations of cells with distinct mutational profiles, called clones. This process leads to the genetic heterogeneity widely observed in tumour…

Applications · Statistics 2017-02-07 Francesco Marass , Florent Mouliere , Ke Yuan , Nitzan Rosenfeld , Florian Markowetz

Research in oncology has changed the focus from histological properties of tumors in a specific organ to a specific genomic aberration potentially shared by multiple cancer types. This motivates the basket trial, which assesses the efficacy…

Applications · Statistics 2020-02-11 Jin Jin , Marie-Karelle Riviere , Xiaodong Luo , Yingwen Dong

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