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Informational entities such as a VA statements can be represented at **different 'levels of abstraction'** - from an object representing the statement's abstract information content, to an object repr…
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This ticket aims to get a better handle on how oncogenicity and pathogenicity are related, and the constraints we should model around them with respect to variant origin, the disease object, and the s…
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**Is your feature request related to a problem? Please describe.**
We've implemented #71 . Now we need to finish it
**Describe the solution you'd like**
- Implement methods in the class
- Add un…
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Hi,
I have used AnnotSV v3.4 to annotate copy number variants identified through the GATK-gCNV pipeline. I need to filter these variants based on their frequency in gnomAD, but can find such informat…
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15697 1
163960 3
2250 4
1686 5
1 ACMG_class
27464 NA
Hi, Why there are no class 2 in ACMG_class column?
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**Is your feature request related to a problem? Please describe.**
There are ACMG classifications for CNVs. VarFish does not provide support for them.
**Describe the solution you'd like**
Imp…
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Can an Edit-function be added to the ACMG-classification-module in Scout, available to the author of each ACMG-classification? For example, when we have meetings about a variant, with the author of a …
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https://mp.weixin.qq.com/s/kcthNfAXAA8OCGc298tmsA
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Name: James East
Institution: Harvard ACMG
The `time` dimension on TROPOMI and blended boundary condition files on 2018-04-03 is the wrong size and HEMCO fails when reading these files as a result…
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Name: James East
Institution: Harvard ACMG
SRON plume csv files are scraped from the SRON website in these lines:
https://github.com/geoschem/integrated_methane_inversion/blob/ed50db58cf180cbfcfb…