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Hi,
I was trying to run ```cpsr``` but it popped up an error when generating output file. Can you check for me please? Thank you in advance!
```
2019-05-06 17:15:26 - cpsr-writer - INFO - STEP…
jxshi updated
5 years ago
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Mode of inheritance: autosomal dominant. Observed weighted pathogenic variant count: 1.80. λdisease=1. λbackground=0.0761. P(G|D)=0.2193. P(G|¬D)=0.0054. log10(LR): 1.61.
In this case there were tw…
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* MMSplice version: 0.2.8
* Python version: Python-3.6.8
* Operating System: Linux
### Description
I use the mmsplice to do the prediction of splice variants, however, the output only contain 3 …
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Hi Sigve,
Wondering what was the rationale behind skipping variants which have "conflicting_interpretations_of_pathogenicity" by ClinVar regardless of other annotations that can be (likely) pathoge…
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Currently, we do not downweight genes that have say 10 benign and one called pathogenic variant. However, experience shows that often these cases result in false positive results. We can consider a he…
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@chapmanb
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When running sample data provided in test folder getting error 'No annotation.csv found'
Error log is as follows:
setting up MToolBox environment variables...
...done
setting up MToolBox va…
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CNVs, microsatellites and a variety of somatic variant representations have given rise to the notion of defining a variant grouping that is a set of variant instances (not necessarily equivalent) whic…
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Hi -- I was able to successfully run CharGer, but all variants are classified as "Uncertain Significance." Is there a setting that must be tweaked for variant annotation to work correctly? I'm guessin…