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Hi,
I noticed you currently use version 4.3 of the VCF specification for tandem repeats. However, version 4.3 does not provide guidelines on handling tandem repeats, whereas version 4.4 does. Do y…
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Hello,
I see that LUMPY is coming from the same lab as GEMINI, so I was wondering if there is a workflow for running annotating and filtering variants called by LUMPY.
Ideally, the pipeline would …
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Hi,
I'm wondering if it is possible to run the hiPHIVE prioritization as a stand-alone tool providing a list of HPO terms.
Basically, I want to get a list of all genes with the associated hiPHIVE …
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Variant prioritization fails when "NA" is encountered, which throws the following error:
prioritization.py priority_tmp.txt
Traceback (most recent call last):
File "/path/to/MToolBox/MToolBox/p…
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### Describe the feature
As described in [the SageMaker `Endpoint` L2 construct RFC](https://github.com/aws/aws-cdk-rfcs/blob/master/text/0431-sagemaker-l2-endpoint.md#feature-additions):
> [Ser…
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### What version of Scylla or Cassandra are you using?
2022.2.6
### What version of Gocql are you using?
HEAD: e38b2bcca0a61280272806d1e2bd2b23c9749773
*Description*
Scylla shard-aware driver…
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Unable to input VCF for variants/genes input step
Download this VCF that contains …
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https://help.keyman.com/developer/engine/iphone-and-ipad/16.0/LanguageResource/ talks about these types but they are not documented. Also, many types are either not linked up, or the links are shown a…
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**Is your feature request related to a problem? Please describe.**
This is an improvement to integrate PEDIA into VarFish.
PEDIA is an approach for prioritization of exome data by facial image a…
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Currently, the priority of conflicting signal-triggered styles relies solely on the order in which they are processed and appear in the output stylesheet. This lack of proper prioritization results in…