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Show HGMD transcript in External

Background

Users need information about what transcript is used by HGMD, for two main reasons:

  • To ease transition to new gene panel builder, which will use MANE Select as source instead of HGMD
  • Transcripts chosen by HGMD can give a good idea of what has been used in the literature, which is important information when performing additional web searches

Implementation

We originally intended to include this in the Gene info popup, but this has proven too complicated at this time, so will instead implement it as a configurable annotation in the HGMD PRO card, EXTERNAL section on the CLASSIFICATION page (see user manual and annotation-config.yml, target/source is external.HGMD). Transcript reference should be displayed as is, below other items if present. After implementation, it should look like this:

  • Variant with a HGMD record:
    image

  • Variant without a HGMD record (note that these are currently greyed out and collapsed due to no data to display):
    image

Note: HGMD transcripts was added to the annotation in the AMG setup (anno-targets) in AMG-2686 and ousamg/apps/anno-targets#15 / MR ousamg/apps/anno-targets!75

Edited by Morten C. Eike
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