Uploaded image for project: 'IGB'
  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
    • Labels:
      None

      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.

        Attachments

          Issue Links

            Activity

            No work has yet been logged on this issue.

              People

              • Assignee:
                ann.loraine Ann Loraine
                Reporter:
                ann.loraine Ann Loraine
              • Votes:
                0 Vote for this issue
                Watchers:
                2 Start watching this issue

                Dates

                • Created:
                  Updated:
                  Resolved: