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### Name and Institution (Required)
Name: Todd Mooring
Institution: Harvard ACMG
### Confirm you have reviewed the following documentation
I affirm that I have read the relevant documentatio…
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If an ACMG classification is "deleted" from a variant, it can still be seen on the variants view. :blush:
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Hi Veronique,
Thank you for keeping AnnotSV updated and making it the go to tool for SV annotation. I used V3.1 on my dataset and it worked fine. Saw that new versions were released so tried to use…
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Hi , we at CMMS have a wish for this page.
We have read the attached publication where the PSV1 criteria can be downgraded to
PVS1-strong
PVS1-moderate
PVS1-supp
This downregulation affects the…
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**Is your feature request related to a problem? Please describe.**
Currently, only presets for ACMG v1 and v2 are included per default in "Gene Allowlist" for Filter Query.
![image](https://user-im…
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### Description of the problem
Using version12.9.3, got the "Infinity in DO_CLOUD_CONVECTION" error starting since the 2021/04/04 19:30 time step.
```
- Found all A1 met fields for 2021/0…
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The annotation of disease genes is useful. We should annotate genes that are in the ACMG list or that have a disease link via HPO or that have a likely pathogenic/pathogenic annotation in clinvar as s…
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Hello
I have my vcf file annotated in AnnotSV as tsv and vcf files. Using bcftools, I tried to extract columns which have been annotated with DDD database as follows:
`bcftools view -i 'INFO/B_…
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From https://github.com/Clinical-Genomics/scout/issues/1460
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ACMG-klassning, Kan den göras mer levande/dynamisk i Scout. I riktlinjer för t.ex. mitokondriella varianter, McCormick et al., 2020, Specifications of the ACMG-AMP standards and guidelines for mitocho…