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### Background
Following Variation Set discussions at the Boston Plenary, it was decided that VR will only provide a model for **static** Variation Sets - as simple objects holding just an enumerated…
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Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
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The 'At-A-Glance' (AAG) idea refers to a set of 4-5 edge properties that provide a high level EPC summary, allowing users to make a first pass assessment of confidence and relevance for a given KG Edg…
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There have been previous mentions of the need to determine oncogenicity from variant + disease contexts:
https://github.com/cancervariants/metakb/issues/3#issuecomment-443148080
https://github.com…
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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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**Describe the bug**
VariantValidator provides incorrect HGVS descriptions for intronic variants. E.g.,
- [`NM_001283009.2:c.1266+3_1266+80del`](https://variantvalidator.org/service/validate/?varian…
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Whenever you encounter an error, please also include:
- [x] Version of PCGR.
- [x] Genome build (grch37/grch38).
- [x] the complete command you used to invoke pcgr (including all explicit options…
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VR needs to have a path for representing translocations.
Allele is currently defined as a contiguous sequence change at a single location. Translocations and junctions are unlikely to fit in that m…
reece updated
6 months ago
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Hello! I was analyzing on AnnotSV 3.2.3 using its docker image (we've been using this version and haven't validated new ones yet) and came across a ClinGen criteria that I could not understand.
So…
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**Is your feature request related to a problem? Please describe.**
Grading using the ACMG criteria and scheme is very useful. As also mentioned in #476, specific groups and labs have made their o…