Analysis of mutational signatures with yet another package for signature analysis

D Hübschmann, L Jopp‐Saile… - Genes …, 2021 - Wiley Online Library
Different mutational processes leave characteristic patterns of somatic mutations in the
genome that can be identified as mutational signatures. Determining the contributions of …

[HTML][HTML] Portrait of a cancer: mutational signature analyses for cancer diagnostics

A Van Hoeck, NH Tjoonk, R van Boxtel, E Cuppen - BMC cancer, 2019 - Springer
Background In the past decade, systematic and comprehensive analyses of cancer
genomes have identified cancer driver genes and revealed unprecedented insight into the …

[HTML][HTML] Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

M Díaz-Gay, M Vila-Casadesús, S Franch-Expósito… - BMC …, 2018 - Springer
Background Mutational signatures have been proved as a valuable pattern in somatic
genomics, mainly regarding cancer, with a potential application as a biomarker in clinical …

mSignatureDB: a database for deciphering mutational signatures in human cancers

PJ Huang, LY Chiu, CC Lee, YM Yeh… - Nucleic acids …, 2018 - academic.oup.com
Cancer is a genetic disease caused by somatic mutations; however, the understanding of
the causative biological processes generating these mutations is limited. A cancer genome …

Sigflow: an automated and comprehensive pipeline for cancer genome mutational signature analysis

S Wang, Z Tao, T Wu, XS Liu - Bioinformatics, 2021 - academic.oup.com
Mutational signatures are recurring DNA alteration patterns caused by distinct mutational
events during the evolution of cancer. In recent years, several bioinformatics tools are …

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment

M Díaz-Gay, R Vangara, M Barnes, X Wang… - …, 2023 - academic.oup.com
Motivation Analysis of mutational signatures is a powerful approach for understanding the
mutagenic processes that have shaped the evolution of a cancer genome. To evaluate the …

[HTML][HTML] CANCERSIGN: a user-friendly and robust tool for identification and classification of mutational signatures and patterns in cancer genomes

M Bayati, HR Rabiee, M Mehrbod, F Vafaee… - Scientific reports, 2020 - nature.com
Abstract Analysis of cancer mutational signatures have been instrumental in identification of
responsible endogenous and exogenous molecular processes in cancer. The quantitative …

The repertoire of mutational signatures in human cancer

LB Alexandrov, J Kim, NJ Haradhvala, MN Huang… - BioRxiv, 2018 - biorxiv.org
Somatic mutations in cancer genomes are caused by multiple mutational processes each of
which generates a characteristic mutational signature. Using 84,729,690 somatic mutations …

A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies

A Degasperi, TD Amarante, J Czarnecki, S Shooter… - Nature cancer, 2020 - nature.com
Mutational signatures are patterns of mutations that arise during tumorigenesis. We present
an enhanced, practical framework for mutational signature analyses. Applying these …

Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …