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Hi,
The link on GitHub for zero-shot clinical substitution scores (https://marks.hms.harvard.edu/proteingym/zero_shot_clinical_substitution_scores.zip) seems not working.
For the model scores d…
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Here are the next sets of VCEPs I'd prioritize for creating reports for, these groups are now approved and have either submitted to ClinVar or should be shortly https://docs.google.com/spreadsheets/d/…
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After discussion with Heidi in our Nov 22 meeting, she liked to be able to see a count unique SCVs per Reason per CURATOR for Most Recent Non-Contributory Non-Retired Action.
This would be very si…
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We can use the Monarch knowledge graph to extract info on _how_ each gene is linked to each rare disease phenotype; i.e. missense mutation, splicing mutations, disrupted promoter, methylation, etc.
…
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Resolved by CvC Curation, this is a priority after all VCEPs have a working report with an Alerts, Priorities and Tracking tag
Needs further specification
Suggested at Jan 26, 2023 Broad feedbac…
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This should be done on ingest of the `clinvar-combined` stream. Because individual clinical assertions (SCVs) are *always* ingested before aggregate assertions (VCVs) within a single release because o…
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**Describe the bug**
A clear and concise description of what the bug is.
**To Reproduce**
Steps to reproduce the behavior:
1. Go to [this variant in REEV](https://reev.cubi.bihealth.org/seqv…
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### Is your request related to a specific disease? Please describe.
'peeling skin syndrome' (DOID:0060283) has been expanded by OMIM to a [phenotypic series](https://omim.org/phenotypicSeries/PS27030…
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## Issue 1
## Describe the issue
I'm currently having issue running vep using docker.
The error seems to be caused by the directory issues but I cannot find the problem.
Is there any solutions t…
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Hello,
I'm using Clair3 for variant calling on human samples that were sequenced using R10 flowcells. When I used the `r941_prom_sup_g5014` model, developed by Clair3 developers, I obtained variant…