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  • Patchwork - allele-specific somatic CNAs in cancer (WGS)

    We have developed an R package for allele-specific copy number analysis of whole genome sequenced tumor tissue, capable of handling normal cell content and aneuploidy. The software takes BAM or ASM (Complete Genomics) formatted input, and is designed for difficult samples with low tumor cell content or coverage, subclones, or complex genomic alterations such as chromothripsis.

    Instructions are under development and available at:
    Tutorial and information regarding Patchwork and PatchworkCG, an allele-specific visualization tool developed for cancer genomes.


    The R package is hosted at:
    Allele-specific Copy-number analysis for whole-genome sequenced data in CompleteGenomics or BAM format.


    Some aspects of the code remain a work in progress, and there may be a few bugs around. Feel free to contact us (or post here) with any feedback or questions.

  • #2
    Does it also work with haploid organisms, eg bacteria ?

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    • #3
      Originally posted by colindaven View Post
      Does it also work with haploid organisms, eg bacteria ?
      Human genomes only at this time, we have no plans for other species.

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