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Dear authors of vcf2fhir,
We have genetic variants with VCF format. Your software is helping us to have the HL7 format, which our variants are included as `observations ` under `DiagnosticReport`. …
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**Describe the bug**
Can our seqr searches prioritize variants reported to be pathogenic or likely pathogenic in Clinvar, ignoring all other parameters? It currently does not, if the variant is in on…
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Dennis Grishan (Nebula) noticed that there are cases where this shows:
Instead of this:
![Uploading Screen Shot 2020-07-23 at 6.59.49 PM.png…]()
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Include other clinical significance variants: we’will score them as 0 but present the information
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On behalf of the ClinGen Hearing Loss and Epilepsy Gene Curation Expert Panels, I am requesting an expanded definition of DOORS syndrome (MONDO:0009079).
## Expanded Textual definition
DOORS sy…
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For new term requests, please provide the following information:
## CBL-related disorder
The ClinGen RASopathy Expert Panel would like this term to replace the term:
Noonan syndrome-like disord…
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After our call today I sat down with other member of our annotation team and got some clarification, both for myself and for the model.
First off the terms we're using for [primary-amino-acid-change-…
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Hi Sebastian,
How's it going? All good I hope.
I was playing with Arriba on some samples for which we have tumor **and** normal RNA. Part of the question I was trying to answer myself was: how …
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https://www.ncbi.nlm.nih.gov/books/NBK1401/
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**Preferred term label:**
SCN4A-related myopathy, autosomal recessive
**Synonyms**
- Congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis
- Myopathy with p…