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### Name and Institution (Required)
Name: Lucas Estrada
Institution: Harvard ACMG
### Description of your issue or question
### Name and Institution (Required)
Name: Lucas Estrada
Institut…
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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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Hello, after update from 3.3.6 to 3.4.2 our output lost `TAD_coordinate` and `ENCODE_experiment` columns.
I haven't found any info about it in [changelog](https://github.com/lgmgeo/AnnotSV/blob/mas…
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for example: try the `search-external` API call in the explorer here:
https://api.staging.mavedb.org/docs#/publication%20identifiers/search_external_publication_identifiers_api_v1_publication_ident…
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18/1 2023 9.00 - 10:30 link: https://ki-se.zoom.us/j/67694776153?pwd=eHFYK3RZUWtiQXRrVklFMUdkZS9JUT09
# Update highlights
[Since 4.59, GMCK-RD theme day 2022-09-28]
- ClinVar submission
- Ph…
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Hi Sigven,
Thanks for this wonderful project.
Recently I use PCGR to get both HTML report and MAF.
It seems that the file input to vcf2maf isn't annotated, so most column are empty in the final…
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### Name and Institution (Required)
Name: James East
Institution: ACMG
### Description of your issue or question
When running an inversion using the `bugfix/jacobian-perturbation-fix branch`…
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**Is your feature request related to a problem? Please describe.**
In order to complete the AutoPVS1 we need to implement this method.
**Describe the solution you'd like**
- [ ] Research how to i…
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**Is your feature request related to a problem? Please describe.**
In order to complete the AutoPVS1 we need to implement this method.
**Describe the solution you'd like**
- [ ] Research how to i…
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VCI evaluations are transformed to an EvidenceLine containing a CriterionAssessment. If the evalutation's `criteriaStatus` is `not-met`, then the transformed EvidenceLine should have evidenceStrength …