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Splice prediction scores missing for intronic variant #446

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sczakihl opened this issue Feb 6, 2024 · 3 comments · Fixed by bihealth/reev-frontend-lib#99 or #451
Closed

Splice prediction scores missing for intronic variant #446

sczakihl opened this issue Feb 6, 2024 · 3 comments · Fixed by bihealth/reev-frontend-lib#99 or #451
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bug Something isn't working
Milestone
0.6.0

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@sczakihl
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sczakihl commented Feb 6, 2024

Describe the bug
Splice prediction scores missing for intronic variant

To Reproduce
Steps to reproduce the behavior:

  1. Go to 'reev'
  2. entervariant as genomic chrX:129156859:C:G or cDNA level NM_001379451.1(BCORL1):c.3608-13C>G
  3. Scroll down to 'scores'
  4. See error

Expected behavior
mmsplice and spliceai scores should be provided

Screenshots
grafik
@sczakihl sczakihl added the bug Something isn't working label Feb 6, 2024
@holtgrewe holtgrewe added this to the 0.6.0 milestone Feb 6, 2024
holtgrewe added a commit to bihealth/reev-frontend-lib that referenced this issue Feb 6, 2024
@holtgrewe
fix: display splicing scores even when non-coding (bihealth/reev#446)
b4be47b
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Root Cause Analysis
Scores currently not shown if position not in dbNSFP, although splice scores are available even then.

@holtgrewe holtgrewe linked a pull request Feb 6, 2024 that will close this issue
fix: display splicing scores even when non-coding (bihealth/reev#446) bihealth/reev-frontend-lib#99
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@holtgrewe
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@sczakihl please confirm that this is fixed

holtgrewe added a commit to bihealth/reev-frontend-lib that referenced this issue Feb 6, 2024
@holtgrewe
fix: display splicing scores even when non-coding (bihealth/reev#446) (…
d30f492 
…#99)
holtgrewe added a commit that referenced this issue Feb 6, 2024
@holtgrewe
fix: bump rfl to fix non-coding splice display (#446)
e294950
holtgrewe added a commit that referenced this issue Feb 6, 2024
@holtgrewe
fix: bump rfl to fix non-coding splice display (#446) (#451)
c5dd0f1
@holtgrewe holtgrewe linked a pull request Feb 6, 2024 that will close this issue
fix: bump rfl to fix non-coding splice display (#446) #451
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@varfish-bot varfish-bot mentioned this issue Feb 6, 2024
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@sczakihl
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sczakihl commented Feb 6, 2024

@holtgrewe yes, working fine now

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0.6.0
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@holtgrewe @sczakihl