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Good morning,
I have a question about pymol. I understand the how hotspot3d predict the clusters. But when I read a paper “Pathogenic Germline Variants in 10,389 Adult Cancers”,Figure 7B in …
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I'm using SAGE v1.1 but it doesn't seem to output any variants for me. I'm using a human tumour-normal dataset in which I have some somatic SNV, MNV and indel calls that are pretty convincing (called …
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Hello. I'm CharGer user.
I appreciate your helpful program.
In this paper (Cell, 2018, 173, 355-370), this BRCA2 variant (Supplement xlsx file 2A, 13:g.32890660A>G) is one of pathogenic and rar…
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Evaluate concordance and determine overall set of high-confidence somatic variants for PBTA.
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Dear Dr Callahan,
I am relatively new to the use of R and Dada2 so I apologize in advance if my question does not make sense.
I am using Dada2 to looks for variants in 10 loci amplified by Illumin…
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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…