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Might need approval from RD leads but it was suggested to be useful for NUH scientists.
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### New IMI feature or discussion
Name: Lucas Estrada
Institution: Harvard ACMG
### Description of your issue or question
Our boundary condition scripts currently use a 4x5 degree resolution s…
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I'm not sure what's going on here, but every so often a Jenkins run will fail with a build timeout (7200 seconds) with stack traces that do not look like deadlock. They never reproduce for me.
We re…
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Hi, I think there may be a bug in VCF file that is produced by Exomiser.
Specifically, the `EXOMISER_ACMG_DISEASE_NAME` sub-field may include a value such as `"Presynaptic congenital myasthenic sy…
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### Name and Institution (Required)
Name: Lucas Estrada
Institution: Harvard ACMG
### Description of your issue or question
The current iteration of calculate_bias.py (`v2023-06`) uses a thre…
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**URL**: https://account.netzero.net/account/acmg/acmg.do?cf=sp
**Browser / Version**: Firefox 115.0
**Operating System**: Windows 7
**Tested Another Browser**: No
**Problem type**: Site is no…
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Hi @lgmgeo,
Firstly, thanks for AnnotSV, its such a great tool.
I've been running the command line tool on some multi-caller VCFs and came across an error that I've had no luck in resolving. M…
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Add a classification process trough queries.
Same as Prioritization but with multiple criteria.
Create a tags ? a score ? a INFO/tag in flags type ?
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Exomiser 10 - 13.2.1 use the following default frequency sources:
```yaml
frequencySources: [
THOUSAND_GENOMES,
TOPMED,
UK10K,
ESP_AFRICAN_AMERICAN, ESP_EUROPEAN_AMERICAN, ESP_ALL,
…
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Once the changes requested in https://github.com/clingen-data-model/clinvar-scv-curator-ext/issues/57 go through - the Non-contributory existing annotations should be mapped as follows
Previous…