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Currently, if a `policy_expr` has a JSON pointer (most all of them do), we can't parse the expression into the structured `Expr` type until the analysis completes and we have the value to insert at sa…
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Currently, the only option is to link to an ongoing game.
For example, `govariants.com/variants/baduk`
Each page could have a blurb on the rules, screenshots, and a create game form. Maybe inst…
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I have assembled a single haplotype and aligned it to the hg38 reference genome. Then, I used SVision to call structural variants (SVs). When I called SVs using each haplotype separately, both haploty…
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Hi,
There seem to be a problem with running the following script below when I apply a --freqUpper filter of 0.01 or 0.05. The script would run without a problem when the --freqUpper is set to 1 (equ…
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### Submitter Name
Daniel Puthawala
### Submitter Affiliation
NCH / GA4GH
### Project Details
The Cat-VRS is the newest product (still under development) under the GKS workstream. Cat-VRS is bui…
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Hello, I would like to share an experience and a mistake I made during running the first step of REGENIE.
I ran REGENIE with the following code:
```
regenie \
--step 1 \
--bed BioVU_array…
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Hey there!
I am currently working on a project involving mutagenesis analysis using the AnalyzeSaturationMutagenesis tool. Our rationale is that a single nucleotide exchange due to a sequencing err…
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Salutations,
I am running RMATS on some pateint data (150 bp PE reads) and I am noticing that I am getting multiple events with very similar locations (a variant is a few base pairs longer or shorter…
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In the summary of the meta-analysis (below) there is a total tally of variants per category. However, this seems to be a bit of (error file reports many more variants that were not found in the refere…
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Hi there,
I'm using SAIGE v1.0.4 with conditional analysis. This works well when I have a set of variants, but when there is only one variant in the condition (e.g. --condition=1:1:C:T) I get this …