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  1. IGB
  2. IGBF-3978

Investigate: Visualizing phasing in IGB

    Details

    • Type: Task
    • Status: To-Do (View Workflow)
    • Priority: Major
    • Resolution: Unresolved
    • Affects Version/s: None
    • Fix Version/s: None
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      Description

      Situation: We talked to a number of people at ASHG2024 that were interested in visualizing phasing in IGB.

      In brief, phasing involves separating maternally and paternally inherited copies of each chromosome into haplotypes. PacBio has posted a blog with a lot of useful information about haplotypes and phasing which can be found here: https://www.pacb.com/blog/ploidy-haplotypes-and-phasing/

      We know that VCF files contain phasing information, but since those files only contain variant information, they likely wouldn't be useful for visualizing phasing across reads. Instead, we know that PacBio and possibly some other long read sequencing platforms (Illumina?) provide phasing information, but it's unclear if that information is contained in a BAM file or if it's a separate analysis that PacBio has to do.

      Task: Look into how IGV displays phasing data: https://www.pacb.com/blog/igv-3-improves-support-pacbio-long-reads/. Use their example dataset to compare how this data is currently being displayed in IGV vs IGB. Examine the files, if possible, to see what the format of this PacBio output is.

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          pkulzer Paige Kulzer added a comment - 10X Genomics has a haplotype browser: https://support.10xgenomics.com/genome-exome/software/visualization/latest/haplotype-browser

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            • Assignee:
              pkulzer Paige Kulzer
              Reporter:
              pkulzer Paige Kulzer
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              • Created:
                Updated: