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Right gene NOT saved for variants loaded with scout load region command

See original GitHub issue

Customer asked to load gene MICAL1 for this case: https://scout.scilifelab.se/cust003/19247

Command runned on hasta prod was this: scout load region --case-id keycaiman --hgnc-id 20619 Which results in this output: image

So you imagine that 6 clinical SNVs should be found in this gene.

But filtering by gene in Scout you find none.

Searching instead by gene coordinates (chr 6, start 109765265, end 109787171) You get these 6 (NO MICAL1)

image

The region looks busy by looking at the gene track on UCSC genome browser:

image

Issue Analytics

  • State:closed
  • Created 2 years ago
  • Comments:7 (5 by maintainers)

github_iconTop GitHub Comments

1reaction
northwestwitchcommented, May 20, 2021

I misunderstood this. Closing this issue and reopening the ticket. The customer has the option to load research variants or rerun the case after adding the gene to a clinical panel.

1reaction
jemtencommented, May 20, 2021

I’ll look into it

Read more comments on GitHub >

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