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https://mp.weixin.qq.com/s/mnIE55dQbZZa1qDGZIkusQ
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### Need
As a clinician I want to be able to detect somatic variants using a matched normal sample to filter out germline-variants, but I want the filtering-strategy to be appropriately set so that t…
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### Installation Type
Standalone
### pVACtools Version / Docker Image
3.1.1
### Python Version
_No response_
### Operating System
_No response_
### Describe the bug
hello,
With ref-transcrip…
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## Need
Background to this feature can be found here: https://github.com/Clinical-Genomics/BALSAMIC/issues/1166
In short the need is to remove this filter bcftools filter`--include FORMAT/AF[0] …
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## Need
Perhaps in particular for QC tools there are many parameters that are not defined as constants. Such as:
And:
It would be nicer to have them as constants similar to how it's configu…
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## Keyword: efficient
### End-to-end codesign of Hessian-aware quantized neural networks for FPGAs and ASICs
- **Authors:** Javier Campos, Zhen Dong, Javier Duarte, Amir Gholami, Michael W. Mahoney,…
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### Need
As a clinician I need to be able to detect the IGH::DUX4 SV reliably in all affected samples so I can reliably call it.
This event is generally missed
### Suggested approach
Add the samtool…
fevac updated
7 months ago
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**Background**:
The [cBioPortal](https://cbioportal.org/) is an open-access, open-source resource for interactive exploration of multidimensional cancer genomics data sets, which are collected fro…
inodb updated
8 months ago
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https://mp.weixin.qq.com/s/QXZgq-kefkiX1GwtKxvIUw
ixxmu updated
5 months ago
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**Is your feature request related to a problem? Please describe.**
In an inter-laboratory comparison (https://github.com/Clinical-Genomics/External-comparison/issues/22) there were 2 clearly somati…