Details
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Type:
Improvement
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Status: To-Do (View Workflow)
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Priority:
Major
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Resolution: Unresolved
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Affects Version/s: None
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Fix Version/s: None
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Labels:
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Story Points:2
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Epic Link:
Description
To support clinical genetics, we need to provide tracks that show human variations. Users need to be able to visualize polymorphisms in a track. They also need to be able to right-click on a variation and see link-outs to external resources.
To perform this task:
- First understand how IGB is displaying polymorphisms for the human genome. View the data being shown now from dbSNP.
- Identify a source of polymorphism data that maps variant identifiers to genomic locations. Look at: ClinVar. Probably this will be the most useful source and should probably be shown separately in its own track.
- Obtain the data and format it for display in IGB. (Follow same basic protocols as for other data sets.)
This will likely require building new data processing code. Add any new code to the genomesource repository using standard fork-and-branch workflow. Ensure that your code can be used multiple times as we update the data.
Possible complication:
These data may be so huge that we can't distribute them via simple file formats.