ArticleNature communications2024
A comprehensive comparison of tools for fitting mutational signatures.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Article
- Motif-centered analyses reveal universal and tissue-specific mutagenic mechanisms operating in the human body.NAR cancer · 2026Article
- Long-read sequencing of single cell-derived melanoma sublines reveals divergent and parallel genomic and epigenomic evolutionary trajectories.Nature communications · 2026Article
- The Role of Molecular Testing in Head and Neck Squamous Cell Carcinoma of Unknown Primary.Head and neck pathology · 2026Review
- Therapy-associated mutagenesis at CTCF binding sites is shaped by chromatin context and DNA repair capacity.bioRxiv : the preprint server for biology · 2026Article
- Landscape of Somatic Alterations in Thai Pediatric Hepatoblastoma: Implications for Clinical Outcomes and Therapeutic Opportunities.Medicina (Kaunas, Lithuania) · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- Mutational signatures in hematological malignancies.Einstein (Sao Paulo, Brazil) · 2026Review
- The Mutational Epidemiology of Childhood Cancer.Clinical chemistry · 2025Review
- BASCULE: bayesian inference and clustering of mutational signatures leveraging biological priors.Genome biology · 2025Article
- StarSignDNA: mutation-to-signature attribution for accurate representation of mutational processes in low-mutation contexts.NAR genomics and bioinformatics · 2025Article
- Long-read sequencing of single cell-derived melanoma subclones reveals divergent and parallel genomic and epigenomic evolutionary trajectories.bioRxiv : the preprint server for biology · 2025Article
- Mutational signatures and kataegis in pediatric B-cell precursor acute lymphoblastic leukemia.HemaSphere · 2025Article
- Inferring active mutational processes in cancer using single cell sequencing and evolutionary constraints.bioRxiv : the preprint server for biology · 2025Article
- Benchmarking 13 tools for mutational signature attribution, including a new and improved algorithm.Briefings in bioinformatics · 2024Article
- Unravelling mutational signatures with plasma circulating tumour DNA.Nature communications · 2024Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 therapeutic strategies. Although tools for extracting mutational signatures de novo have been extensively benchmarked, a similar effort is lacking for tools that fit known mutational signatures to a given catalog of mutations. We fill this gap by comprehensively evaluating twelve signature fitting tools on synthetic mutational catalogs with empirically driven signature weights corresponding to eight cancer types. On average, SigProfilerSingleSample and SigProfilerAssignment/MuSiCal perform best for small and large numbers of mutations per sample, respectively. We further show that ad hoc constraining the list of reference signatures is likely to produce inferior results. Evaluation of real mutational catalogs suggests that the activity of signatures that are absent in the reference catalog poses considerable problems to all evaluated tools.
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