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DC Field | Value | Language |
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dc.contributor.author | Arnedo Pac, Claudia | - |
dc.contributor.author | Muiños Ballester, Ferran | - |
dc.contributor.author | González Pérez, Abel David | - |
dc.contributor.author | López Bigas, Núria | - |
dc.date.accessioned | 2024-05-24T16:16:50Z | - |
dc.date.available | 2024-05-24T16:16:50Z | - |
dc.date.issued | 2024-01-01 | - |
dc.identifier.issn | Arnedo-Pac C, Muiños F, Gonzalez-Perez A, Lopez-Bigas N (2024). Hotspot propensity across mutational processes. Molecular Systems Biology, 20(1), 6-27. DOI: 10.1038/s44320-023-00001-w | - |
dc.identifier.uri | http://hdl.handle.net/2445/211880 | - |
dc.description.abstract | The sparsity of mutations observed across tumours hinders our ability to study mutation rate variability at nucleotide resolution. To circumvent this, here we investigated the propensity of mutational processes to form mutational hotspots as a readout of their mutation rate variability at single base resolution. Mutational signatures 1 and 17 have the highest hotspot propensity (5-78 times higher than other processes). After accounting for trinucleotide mutational probabilities, sequence composition and mutational heterogeneity at 10 Kbp, most (94-95%) signature 17 hotspots remain unexplained, suggesting a significant role of local genomic features. For signature 1, the inclusion of genome-wide distribution of methylated CpG sites into models can explain most (80-100%) of the hotspot propensity. There is an increased hotspot propensity of signature 1 in normal tissues and de novo germline mutations. We demonstrate that hotspot propensity is a useful readout to assess the accuracy of mutation rate models at nucleotide resolution. This new approach and the findings derived from it open up new avenues for a range of somatic and germline studies investigating and modelling mutagenesis.© 2023. The Author(s). | - |
dc.format.extent | null | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | English | - |
dc.relation.isformatof | https://doi.org/10.1038/s44320-023-00001-w | - |
dc.relation.ispartof | Molecular Systems Biology, 2024, 20, 1, 6-27 | - |
dc.relation.uri | https://doi.org/10.1038/s44320-023-00001-w | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) | - |
dc.subject | Agricultural and biological sciences (all) | - |
dc.subject | Agricultural and biological sciences (miscellaneous) | - |
dc.subject | Applied mathematics | - |
dc.subject | Biochemistry & molecular biology | - |
dc.subject | Biochemistry, genetics and molecular biology (all) | - |
dc.subject | Biochemistry, genetics and molecular biology (miscellaneous) | - |
dc.subject | Biotecnología | - |
dc.subject | Ciências biológicas ii | - |
dc.subject | Computational theory and mathematics | - |
dc.subject | General agricultural and biological sciences | - |
dc.subject | General biochemistry,genetics and molecular biology | - |
dc.subject | General immunology and microbiology | - |
dc.subject | General medicine | - |
dc.subject | Immunology and microbiology (all) | - |
dc.subject | Immunology and microbiology (miscellaneous) | - |
dc.subject | Information systems | - |
dc.subject | Medicine (miscellaneous) | - |
dc.title | Hotspot propensity across mutational processes | - |
dc.type | article | - |
dc.date.updated | 2024-05-23T11:13:14Z | - |
dc.identifier.idimarina | 6606380 | - |
Appears in Collections: | Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) |
Files in This Item:
File | Description | Size | Format | |
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Arnedo_et_al_MolSysBiol_2024.pdf | 41 MB | Adobe PDF | View/Open |
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