Mutational processes that alter large genomic regions occur frequently in developing
tumors. They range from simple copy number gains and losses to the shattering and …

Extrachromosomal DNA (ecDNA) amplification is an important driver alteration in cancer. It
has been observed in most cancer types and is associated with worse patient outcome. The …

Metastatic cancer remains an almost inevitably lethal disease,–. A better understanding of
disease progression and response to therapies therefore remains of utmost importance …

Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …

Malignant pleural mesothelioma (MPM) is an aggressive cancer with rising incidence and
challenging clinical management. Through a large series of whole-genome sequencing …

Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

Chromothripsis, the shattering and imperfect reassembly of one (or a few) chromosome (s),
is an ubiquitous mutational process generating localized and complex chromosomal …

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 …

Melanoma is a cancer of melanocytes, with multiple subtypes based on body site location.
Cutaneous melanoma is associated with skin exposed to ultraviolet radiation; uveal …