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  1. IGB
  2. IGBF-3841

Deploy new NEBULA data for human genome sequencing / CRAM demo

    Details

    • Type: Task
    • Status: Closed (View Workflow)
    • Priority: Major
    • Resolution: Done
    • Affects Version/s: None
    • Fix Version/s: None
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      Description

      IGB can now open and display contents of CRAM files distributed by Nebula Genomics.

      AL has a recently downloaded CRAM file from Nebula that would be great to use, but it's huge - around 84 Gb.

      For this task, let's use a command line tool to extract the data for chromosome 1, the chromosome shows by default when it opens the latest human genome available in the browser - hg38.

      Let's deploy the actual data file on RENCI hosting and add it as a new data set in IGB Quickload main.

      Once it is there, we can then create a tutorial and also a video showing how to open and load the reads to look for or sanity-check polymorphisms. The tutorial ought to explain the soft clips and the SNPs - what they are and how to interpret them. The materials could also explain how to visually check some of the SNP calls on the Nebula Web site.

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              • Assignee:
                ann.loraine Ann Loraine
                Reporter:
                ann.loraine Ann Loraine
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                  Updated:
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