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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…

Applications · Statistics 2025-02-04 Blake Hansen , Isabella N. Grabski , Giovanni Parmigiani , Roberta De Vito

Non-negative Matrix Factorization (NMF) is a useful method to extract features from multivariate data, but an important and sometimes neglected concern is that NMF can result in non-unique solutions. Often, there exist a Set of Feasible…

Applications · Statistics 2021-01-20 Ragnhild Laursen , Asger Hobolth

Somatic mutations, or alterations in DNA of a somatic cell, are key markers of cancer. In recent years, mutational signature analysis has become a prominent field of study within cancer research, commonly with Nonnegative Matrix…

Quantitative Methods · Quantitative Biology 2025-07-01 Iris Lang , Jenna Landy , Giovanni Parmigiani

Over the past few years, there has been a considerable spread of microarray technology in many biological patterns, particularly in those pertaining to cancer diseases like leukemia, prostate, colon cancer, etc. The primary bottleneck that…

Quantitative Methods · Quantitative Biology 2020-07-20 Parth Patel , Kalpdrum Passi , Chakresh Kumar Jain

We present a novel method for extracting cancer signatures by applying statistical risk models (http://ssrn.com/abstract=2732453) from quantitative finance to cancer genome data. Using 1389 whole genome sequenced samples from 14 cancers, we…

Genomics · Quantitative Biology 2017-01-24 Zura Kakushadze , Willie Yu

Cancer, with its inherent heterogeneity, is commonly categorized into distinct subtypes based on unique traits, cellular origins, and molecular markers specific to each type. However, current studies primarily rely on complete multi-omics…

Machine Learning · Computer Science 2024-11-26 Yingxuan Ren , Fengtao Ren , Bo Yang

Supervised matrix factorization (SMF) is a classical machine learning method that simultaneously seeks feature extraction and classification tasks, which are not necessarily a priori aligned objectives. Our goal is to use SMF to learn…

Machine Learning · Statistics 2023-11-21 Joowon Lee , Hanbaek Lyu , Weixin Yao

The spectrum of mutations in a collection of cancer genomes can be described by a mixture of a few mutational signatures. The mutational signatures can be found using non-negative matrix factorization (NMF). To extract the mutational…

Methodology · Statistics 2022-11-02 Marta Pelizzola , Ragnhild Laursen , Asger Hobolth

Identifying altered pathways that are associated with specific cancer types can potentially bring a significant impact on cancer patient treatment. Accurate identification of such key altered pathways information can be used to develop…

Machine Learning · Statistics 2017-12-05 Sunho Park , Tae Hyun Hwang

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

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…

Applications · Statistics 2013-12-09 Jie Ding , Lorenzo Trippa , Xiaogang Zhong , Giovanni Parmigiani

Machine learning can precisely identify different cancer tumors at any stage by classifying cancerous and healthy samples based on their genomic profile. We have developed novel methods of MLAC (Machine Learning Against Cancer) achieving…

Genomics · Quantitative Biology 2020-09-15 Arash Hooshmand

Background: Single nucleotide variants (SNVs) are detected as different distributions of DNA samples of distinct types of cancer patients. Even though, it is an exacting task to select the appropriate method to identify cancer to the…

Quantitative Methods · Quantitative Biology 2020-02-26 Bo Li , Junying Zhang , Liang Yu

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

Understanding the association between dietary patterns and health outcomes, such as the cancer risk, is crucial to inform public health guidelines and shaping future dietary interventions. However, dietary intake data present several…

Methodology · Statistics 2025-10-10 Blake Hansen , Dafne Zorzetto , Valeria Edefonti , Roberta De Vito

Discovery of diagnostic and prognostic molecular markers is important and actively pursued the research field in cancer research. For complex diseases, this process is often performed using Machine Learning. The current study compares two…

Genomics · Quantitative Biology 2020-04-30 Aneta Polewko-Klim , Witold R. Rudnicki

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

One of the central goals in precision health is the understanding and interpretation of high-dimensional biological data to identify genes and markers associated with disease initiation, development, and outcomes. Though significant effort…

Quantitative Methods · Quantitative Biology 2020-09-18 Zhi Huang , Paul Salama , Wei Shao , Jie Zhang , Kun Huang

Risk stratification is a key tool in clinical decision-making, yet current approaches often fail to translate sophisticated survival analysis into actionable clinical criteria. We present a novel method for unsupervised machine learning…

Feature selection is critical in machine learning to reduce dimensionality and improve model accuracy and efficiency. The exponential growth in feature space dimensionality for modern datasets directly results in ambiguous samples and…

Quantum Physics · Physics 2023-11-30 Haiyan Wang
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