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Several predictors have been recommended/requested to be added to the VCI Variant Type predictors table, additionally the predictor table should be updated to be in line with Pejaver et al 2022 and St…
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### Issue description
The CDR allows for italics in headings (section titles), but the italics does not display on the live Cancer.gov site. The italics does not display in Publish Preview either.
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Greetings,
I have a paired somatic pipeline and two of the callers it uses are vardict and varscan2, which will output germline calls as well. I wanted to include them into my VLR candidates beca…
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Dear Joelle
We're using Regenie to perform standard gene-level analyses (burden, skato etc) from population-scale WES data.
We'd like to begin exploring testing entire pathways using the same me…
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I am trying to run tapes using a vep vcf as input. The vep vcf that I am using as input contains the ClinVar significance information in the CLIN_SIG entry which is part of the CSQ INFO field which ha…
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Hi!
I noticed that in our case 23289, the 3'UTR polymorphism c.*442_445delTAAA is visible in Scout, but not shown on the front page, although we have the variant saved as a managed variant. This is q…
MUebe updated
10 months ago
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Clinical centers are recommended to check ACMG's incidental finding list (http://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/). It would be useful if Gemini facilitated this kind of query by either buildin…
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Should we consider an allelic requirement qualifier on variant pathogenicity interpretations that would allow us to capture how many copies of a variant would be required to cause the indicated diseas…
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The [Variant Annotation Types/Categories section](https://docs.google.com/document/d/1csUrC4kX6G1V1GIz07btQQ3oL_cdDPJShuauL_uCjEw/edit#heading=h.fo3u8tl041ts) has the following definition that I'd l…
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The current loader is association-centric; i.e. each document is a relationship between two objects. This is useful for the majority of queries.
It would also be useful to have an object-centric load…