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Hello,
Thank you for the nice package developed. I have a question. I am doing annotations for WGS SV dataset for a set of genes and would like to use the scores for further analysis. What are you…
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methods + authorship file
#### Proposed changes
For Table 2, in addition to pathology reports, Sharon Diskin and Rebecca Kauffman had assessed pathogenic germline variants, so we should add …
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**Describe the bug**
When using the "Clinvar pathogenic" preset duplicate lines are possible.
**To Reproduce**
Steps to reproduce the behavior:
1. Filter the NA12878 trio with "Clinvar patho…
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I'd like to request a term for DeSanto-Shinawi syndrome:
OMIM: [https://omim.org/entry/616708](https://omim.org/entry/616708)
Potential definition: DeSanto-Shinawi syndrome is a neurodevelopment…
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### Justification
Because CuteVariant db/project can be modify (Validation, Import VCF...), the "Source" feature need to change.
A dynamic "View" allows to focus on list of specific variants, with…
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I'd like to request a term for hypotonia, ataxia, and delayed development syndrome:
OMIM: https://omim.org/entry/617330
Potential definition: Hypotonia, ataxia, and delayed development syndrome …
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Create Table with 'population' (common missense variants in gnomAD) and 'pathogenic' (ClinVar pathogenic/likely pathogenic missense variants in severe haploinsufficient genes) variants
ch-kr updated
2 years ago
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The logic for including "Conflicting levels of pathogenicity" should only be when one of the conflicting listings is "pathogenic" or "Likely pathogenic" - right now it is pulling in all conflicting va…
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Related issue 537 on Oncogenic/Pathogenic [EID rework](https://github.com/griffithlab/civic-v2/issues/537)
Using the model set by Predisposing Assertions, we will create an Oncogenicity Assertion.…
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It currently seems only possible to get to the Coverage report, not Coverage overview for a dynamic panel. Let's add a button or two?
Thanks and credits to Sofie S in Lund for noticing!