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MutationalPatterns: comprehensive genome-wide analysis of mutational processes.

Francis Blokzijl | Roel Janssen | Ruben van Boxtel | Edwin Cuppen
Genome medicine | 2018

Base substitution catalogues represent historical records of mutational processes that have been active in a cell. Such processes can be distinguished by various characteristics, like mutation type, sequence context, transcriptional and replicative strand bias, genomic distribution and association with (epi)-genomic features.

Pubmed ID: 29695279

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Associated grants

  • Agency: ZonMw, International
    Id: Zenith 93512003
  • Agency: Nederlandse Organisatie voor Wetenschappelijk Onderzoek, International
    Id: Zwaartekracht Cancer Genomics

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Ensembl (tool)

RRID:SCR_002344

Collection of genome databases for vertebrates and other eukaryotic species with DNA and protein sequence search capabilities. Used to automatically annotate genome, integrate this annotation with other available biological data and make data publicly available via web. Ensembl tools include BLAST, BLAT, BioMart and the Variant Effect Predictor (VEP) for all supported species.

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