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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…

统计方法学 · 统计学 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

Identifying genes underlying cancer development is critical to cancer biology and has important implications across prevention, diagnosis and treatment. Cancer sequencing studies aim at discovering genes with high frequencies of somatic…

应用统计 · 统计学 2013-12-09 Jie Ding , Lorenzo Trippa , Xiaogang Zhong , Giovanni Parmigiani

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…

机器学习 · 计算机科学 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

Precision medicine aims for personalized prognosis and therapeutics by utilizing recent genome-scale high-throughput profiling techniques, including next-generation sequencing (NGS). However, translating NGS data faces several challenges.…

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

定量方法 · 定量生物学 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

The genomic profile underlying an individual tumor can be highly informative in the creation of a personalized cancer treatment strategy for a given patient; a practice known as precision oncology. This involves next generation sequencing…

Molecular data from tumor profiles is high dimensional. Tumor profiles can be characterized by tens of thousands of gene expression features. Due to the size of the gene expression feature set machine learning methods are exposed to noisy…

机器学习 · 计算机科学 2020-07-14 Martin Palazzo , Pierre Beauseroy , Patricio Yankilevich

Recent advances in biological research have seen the emergence of high-throughput technologies with numerous applications that allow the study of biological mechanisms at an unprecedented depth and scale. A large amount of genomic data is…

机器学习 · 统计学 2020-05-11 Nanwei Wang , Laurent Briollais , Helene Massam

Analysis of somatic mutation profiles from cancer patients is essential in the development of cancer research. However, the low frequency of most mutations and the varying rates of mutations across patients makes the data extremely…

The rapidly emerging field of deep learning-based computational pathology has demonstrated promise in developing objective prognostic models from histology whole slide images. However, most prognostic models are either based on histology or…

The purpose of cancer genome sequencing studies is to determine the nature and types of alterations present in a typical cancer and to discover genes mutated at high frequencies. In this article we discuss statistical methods for the…

应用统计 · 统计学 2011-07-26 Lorenzo Trippa , Giovanni Parmigiani

Multi-modal learning plays a crucial role in cancer diagnosis and prognosis. Current deep learning based multi-modal approaches are often limited by their abilities to model the complex correlations between genomics and histology data,…

图像与视频处理 · 电气工程与系统科学 2024-06-21 Yupei Zhang , Xiaofei Wang , Fangliangzi Meng , Jin Tang , Chao Li

Mutational signatures are patterns of somatic mutations in tumor genomes that provide insights into underlying mutagenic processes and cancer origin. Developing reliable methods for their estimation is of growing importance in cancer…

应用统计 · 统计学 2025-02-04 Blake Hansen , Isabella N. Grabski , Giovanni Parmigiani , Roberta De Vito

The emerging field of precision oncology relies on the accurate pinpointing of alterations in the molecular profile of a tumor to provide personalized targeted treatments. Current methodologies in the field commonly include the application…

Major efforts to sequence cancer genomes are now occurring throughout the world. Though the emerging data from these studies are illuminating, their reconciliation with epidemiologic and clinical observations poses a major challenge. In the…

Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

统计方法学 · 统计学 2022-02-11 Dongyan Yan , Subharup Guha

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…

基因组学 · 定量生物学 2017-04-28 Borislav H. Hristov , Mona Singh

Prognostic task is of great importance as it closely related to the survival analysis of patients, the optimization of treatment plans and the allocation of resources. The existing prognostic models have shown promising results on specific…

图像与视频处理 · 电气工程与系统科学 2025-01-14 Binyu Zhang , Shichao Li , Junpeng Jian , Zhu Meng , Limei Guo , Zhicheng Zhao

Identifying subgroups and properties of cancer biopsy samples is a crucial step towards obtaining precise diagnoses and being able to perform personalized treatment of cancer patients. Recent data collections provide a comprehensive…

基因组学 · 定量生物学 2021-04-23 Stefan Groha , Caroline Weis , Alexander Gusev , Bastian Rieck

Cancer is a heterogeneous disease with different combinations of genetic and epigenetic alterations driving the development of cancer in different individuals. While these alterations are believed to converge on genes in key cellular…

定量方法 · 定量生物学 2015-03-31 Mark D. M. Leiserson , Hsin-Ta Wu , Fabio Vandin , Benjamin J. Raphael
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