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As part of adding a Provisional Evidence subtile, we want to add a description to the [Allele Frequency Reference Sets Tile help section](https://brcaexchange.org/help#allele-frequency-reference-sets)…
e-t-k updated
3 months ago
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### Name and Institution (Required)
Name: James East
Institution: Harvard ACMG
### Description of your issue or question
Calls to the Carbon Mapper API fail with a 504 Timeout error in some …
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1. Name of the repo:
Acmg
3. Description of the repo
https://github.com/istio/istio/pull/42360
https://github.com/istio/istio.io/pull/11888
4. How is the repo related to the Istio…
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![image](https://user-images.githubusercontent.com/3852020/99812860-debfa380-2b3e-11eb-84b3-36029899d115.png)
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I'm going to use the 2022 acmg rules how can I change them
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**Is your feature request related to a problem? Please describe.**
The current intervar is not up to date.
**Describe the solution you'd like**
- [x] #188
- [x] #190
- [ ] implement remaini…
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Hi,
What is the best approach to annotate all the available variants in the VCF file with exomiser scores?
I am using this yaml configuration for the analysis. However, some of the variants are …
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As the ACMG/AMP guidelines and the VCI stand, variant classification is a categorical process. Groups are encouraged to move to a point system and with the impending release of a point-based classific…
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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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Currently, the project lacks a script to generate ACMG (American College of Medical Genetics and Genomics) and ComPerMed (Comprehensive Personalized Medicine) classifications for genetic variants. Thi…