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Hi,
I noticed that a `allele` json field is reported for matched variants in custom annotation with the `exact` method. However it is not reported when the `overlap` method is used instead. Please se…
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## Component Description
This component request is for FTVA variants (`usetheme: ftva`) to be created for existing components; the variants will be assembled to build the FTVA Header section.
Ex…
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These three annotation types are related as they build on each other to make statements of higher-order reach and complexity. Here, more fundamental annotations are/can be used as input or evidence i…
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For example, someone may want to have the coverage as a row in the table for the purposes of prioritizing the variants. We should probably have a generic glyph for non-default rows.
Also, as we inclu…
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In table.smk, the rule vembrane_table calls get_vembrane_config to get the parameters for the vembrane header table. This should add the annotation fields from config.yaml.
Example from config.y…
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Could you provide efficient query across the annotations using a FM-index over the concatenated annotation strings from the VCF file? A second compressed bitvector could encode variant annotation star…
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We are looking to add a module that provides basic sequence ontology terms for variant validator, a user story and more detail is listed below:
**User:**
•Clinical Scientists
•Research Scientists
…
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Al - Do you know if there are any issues with the ClinVar annotations? I just pulled up proband .....52 in study A259. I had this listed as a stop gain, clinvar variant in SCN8A, but I'm not seeing an…
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Currently we infer human gene to phenotype annotations by making the join
gene - disease (through a variant)
disease - phenotype
With some minor filtering of gene disease associations for marker…
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**[Sam Brannen](https://jira.spring.io/secure/ViewProfile.jspa?name=sbrannen)** opened **[SPR-14255](https://jira.spring.io/browse/SPR-14255?redirect=false)** and commented
#### Status Quo
#1875…