Mutational signatures: From methods to mechanisms

YA Kim, MDM Leiserson, P Moorjani… - Annual Review of …, 2021 - annualreviews.org
Mutations are the driving force of evolution, yet they underlie many diseases, in particular,
cancer. They are thought to arise from a combination of stochastic errors in DNA processing …

Decoding human cancer with whole genome sequencing: a review of PCAWG Project studies published in February 2020

S Giunta - Cancer and Metastasis Reviews, 2021 - Springer
Cancer is underlined by genetic changes. In an unprecedented international effort, the Pan-
Cancer Analysis of Whole Genomes (PCAWG) of the International Cancer Genome …

Mutational topography reflects clinical neuroblastoma heterogeneity

E Rodriguez-Fos, M Planas-Fèlix, M Burkert… - Cell Genomics, 2023 - cell.com
Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity.
Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational …

DeCiFering the elusive cancer cell fraction in tumor heterogeneity and evolution

G Satas, S Zaccaria, M El-Kebir, BJ Raphael - Cell systems, 2021 - cell.com
The cancer cell fraction (CCF), or proportion of cancerous cells in a tumor containing a
single-nucleotide variant (SNV), is a fundamental statistic used to quantify tumor …

CloneSig can jointly infer intra-tumor heterogeneity and mutational signature activity in bulk tumor sequencing data

J Abécassis, F Reyal, JP Vert - Nature communications, 2021 - nature.com
Systematic DNA sequencing of cancer samples has highlighted the importance of two
aspects of cancer genomics: intra-tumor heterogeneity (ITH) and mutational processes …

Emerging topics in cancer evolution

M El-Kebir, Q Morris, L Oesper… - PACIFIC SYMPOSIUM …, 2021 - World Scientific
Cancer results from an evolutionary process that yields a heterogeneous tumor with distinct
subpopulations and varying sets of somatic mutations. This perspective discusses …

Clone decomposition based on mutation signatures provides novel insights into mutational processes

T Matsutani, M Hamada - NAR genomics and bioinformatics, 2021 - academic.oup.com
Intra-tumor heterogeneity is a phenomenon in which mutation profiles differ from cell to cell
within the same tumor and is observed in almost all tumors. Understanding intra-tumor …

Measuring ongoing chromosomal instability in single-cell DNA sequencing data

M Schneider - 2024 - repository.cam.ac.uk
Chromosomal instability is a characteristic hallmark of cancer. It is providing part of the
genomic variation that makes cancer so heterogeneous and difficult to treat. Consequently …

[图书][B] Continuous-time latent-variable models for time series

Y Rubanova - 2020 - search.proquest.com
Time series data play a crucial role in many applications, such as biology, medicine,
economics, engineering and others. One of the most powerful approaches for time series is …

CloneSig: joint inference of intra-tumor heterogeneity and mutational signatures' activity in tumor bulk sequencing data

J Abécassis, F Reyal, JP Vert - bioRxiv, 2019 - biorxiv.org
The possibility to sequence DNA in cancer samples has triggered much effort recently to
identify the forces at the genomic level that shape tumorigenesis and cancer progression. It …