How to prepare the data for Circos SNV, CNV and SV visulaization in one plot

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Neha Goel

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Feb 25, 2025, 6:06:46 AMFeb 25
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The image is a Circos plot, which provides a visual representation of genomic mutations within a genome. This type of circular visualization is commonly used in genomics to show structural variations, single nucleotide variants, and copy number alterations.

Image should be 
  1. Outer Ring (Chromosomes)

    • The outermost ring represents the chromosomes of the genome.
    • Each chromosome is labeled numerically (1–22, X, Y) and color-coded.
  2. Inner Rings (Mutation Annotations)

    • Various types of mutations and structural variations are represented in different formats.
  3. Types of Mutations Represented:

    • Point Mutation (SNVs - Scatter plot, small dots), Indels

      • Represented as small dots (likely red) on different chromosomes.
      • These indicate specific nucleotide changes.
    • Copy Number Changes  as Heatmap or stacked histogram

      • Shown as a continuous track inside the chromosome ring.
      • Different intensities of shading likely indicate copy number gains or losses.
    • Intrachromosomal Rearrangements SV (Inversion, deletions)

      • Lines connecting two regions within the same chromosome.
      • These indicate structural changes such as inversions or duplications.
    • Interchromosomal Rearrangements Tranlocations

      • Lines linking different chromosomes.
      • These represent large structural variants such as translocations, where a segment of one chromosome moves to another.
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