English
Related papers

Related papers: Integrating opportunities and parametrized signatu…

200 papers

Somatic mutations in cancer can be viewed as a mixture distribution of several mutational signatures, which can be inferred using non-negative matrix factorization (NMF). Mutational signatures have previously been parametrized using either…

Applications · Statistics 2022-07-07 Ragnhild Laursen , Lasse Maretty , Asger Hobolth

Mutational signatures connect characteristic mutational patterns in the genome with biological or chemical processes that take place in cancers. Analysis of mutational signatures can help elucidate tumor evolution, prognosis, and…

Genomics · Quantitative Biology 2024-12-09 Matúš Medo , Charlotte K. Y. Ng , Michaela Medová

Mutational signatures are powerful summaries of the mutational processes altering the DNA of cancer cells. The usual approach to mutational signature analysis consists of decomposing the matrix of mutation counts from a sample of patients…

Methodology · Statistics 2026-02-17 Alessandro Zito , Giovanni Parmigiani , Jeffrey W. Miller

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

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

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 and characterizing mutational paths is an important issue in evolutionary biology and in bioengineering. We here introduce a generic description of mutational paths in terms of the goodness of sequences and of the mutational…

Biomolecules · Quantitative Biology 2023-03-29 Eugenio Mauri , Simona Cocco , Rémi Monasson

This article proposes a novel approach to statistical alignment of nucleotide sequences by introducing a context dependent structure on the substitution process in the underlying evolutionary model. We propose to estimate alignments and…

Statistics Theory · Mathematics 2011-07-18 Ana Arribas-Gil , Catherine Matias

The 'signature method' refers to a collection of feature extraction techniques for multivariate time series, derived from the theory of controlled differential equations. There is a great deal of flexibility as to how this method can be…

Machine Learning · Computer Science 2021-02-09 James Morrill , Adeline Fermanian , Patrick Kidger , Terry Lyons

A Profile Mixture Model is a model of protein evolution, describing sequence data in which sites are assumed to follow many related substitution processes on a single evolutionary tree. The processes depend in part on different amino acid…

Populations and Evolution · Quantitative Biology 2020-07-07 Samaneh Yourdkhani , Elizabeth S. Allman , John A. Rhodes

Motivation : Molecular signatures for diagnosis or prognosis estimated from large-scale gene expression data often lack robustness and stability, rendering their biological interpretation challenging. Increasing the signature's…

Machine Learning · Statistics 2010-01-19 Anne-Claire Haury , Laurent Jacob , Jean-Philippe Vert

This paper presents a portable, privacy-preserving, in-browser platform for the reproducible assessment of mutational signature detection methods from sparse sequencing data generated by targeted gene panels. The platform aims to address…

Genomics · Quantitative Biology 2023-06-05 Aaron Ge , Tongwu Zhang , Clara Bodelon , Montserrat Garcia-Closas , Jonas Almeida , Jeya Balasubramanian

Non-negative matrix factorization (NMF) is a fundamental matrix decomposition technique that is used primarily for dimensionality reduction and is increasing in popularity in the biological domain. Although finding a unique NMF is generally…

Information Theory · Computer Science 2021-08-23 Rami Nasser , Yonina C. Eldar , Roded Sharan

Signature-based techniques give mathematical insight into the interactions between complex streams of evolving data. These insights can be quite naturally translated into numerical approaches to understanding streamed data, and perhaps…

Machine Learning · Statistics 2025-02-21 Terry Lyons , Andrew D. McLeod

Understanding protein dynamics are essential for deciphering protein functional mechanisms and developing molecular therapies. However, the complex high-dimensional dynamics and interatomic interactions of biological processes pose…

Quantitative Methods · Quantitative Biology 2025-05-15 Tiexin Qin , Mengxu Zhu , Chunyang Li , Terry Lyons , Hong Yan , Haoliang Li

Sequential and temporal data arise in many fields of research, such as quantitative finance, medicine, or computer vision. A novel approach for sequential learning, called the signature method and rooted in rough path theory, is considered.…

Machine Learning · Statistics 2020-12-10 Adeline Fermanian

In the field of mutation analysis, mutation is the systematic generation of mutated programs (i.e., mutants) from an original program. The concept of mutation has been widely applied to various testing problems, including test set…

Software Engineering · Computer Science 2016-01-26 Donghwan Shin , Doo-Hwan Bae

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

The persistence of life requires populations to adapt at a rate commensurate with the dynamics of their environment. Successful populations that inhabit highly variable environments have evolved mechanisms to increase the likelihood of…

Genomics · Quantitative Biology 2007-05-23 Taison Tan , Leonard D. Bogarad , Michael W. Deem

Phylogenetics uses alignments of molecular sequence data to learn about evolutionary trees relating species. Along branches, sequence evolution is modelled using a continuous-time Markov process characterised by an instantaneous rate…

‹ Prev 1 2 3 10 Next ›