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Defining mutations:
XAY.1.1+ORF1a:P1640S(C5183T)+S:D1153Y(G25019T)
https://cov-spectrum.org/explore/World/AllSamples/Past6M/variants?aaMutations=ORF1a%3AP1640S%2CS%3AD1153Y&nextcladePangoLineage=XAY…
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Hello.
We are trying to use external reference directories for your tool (we are using Docker for tools and we down want to store 20GB reference in it), tool have support for it - `-annotationsDir`…
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From an email from ClinVar to all the API submitter:
- We will move 'assertionCriteria' to the top level. Note that only one assertion criteria (a citation or a file) may be provided for a submissi…
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Hi,
I'm trying to use the SIFT4G annotator for my vcf file ( in the format requested). Once I feed it through the annotator and try to parse the results file, I only see "NA" in all the SIFT annot…
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Hello,
I am working on a project for which I want to use Exomiser. For this, I want to qualify it on a true positive patient dataset from my laboratory, for which the diagnostic variants have been …
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As terms, "Absolute" and "Relative" are good opposites. In the proposed model, Absolute represents numerical counts, even if there is ambiguity in the count itself (in which case DefiniteRange and Ind…
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Hi,
I am running the pipeline on my data and the jobs ends after 48 hours because of time limit. I set it to 48hrs, as it seems very reasonable for the task. I am running on a single node, setting …
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Should PURPLE process germline SVs from GRIPSS and output a purple.sv.vcf.gz file?
The PURPLE README states under Germline Mode "so that...structural variants can be annotated and filtered" but als…
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In this figure from Alex Wagner, note how Predictive and Prognostic evidence have axes with opposing concepts, and a neutral term in the center.
Note how in CIViC for predictive evidence, app…
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@brianraymor commented on [Thu Jun 02 2022](https://github.com/chanzuckerberg/single-cell-curation/issues/231)
On [**wrangling**](https://czi-sci.slack.com/archives/C024HCSH9PT/p1653578206888059), Mi…