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As for other Statement types, we need to consider what constraints to put on the subject variation molecule type (genomic, transcript, protein) for Variant Pathogenicity statements. (e.g. for Molecul…
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Hi!
As you know we have many databases in cancer scout which is fantastic! We have found a new onw directly connected to drugs/resistance etc, it its really great and I wonder if it can be include…
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https://github.com/monarch-initiative/mondo/actions/runs/4943883719/jobs/8838816012
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**Describe the bug**
We are seeing more issues with the most severe consequence. We recently fixed the clinical filter in scout (https://github.com/Clinical-Genomics/scout/issues/3858) to allow sho…
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We will initially proceed with our initial decision to split 'Predicted' (#21) from 'Experimental' (#34) Functional impact annotations - and model these as separate VA types. Our rationale was that:…
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Proposing a new object/structure that would offer a concise structure to present basic variant information that often accompanies variant annotations, but for which there is no dedicated Statement typ…
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TODO: explore whether it makes sense to
1. name a shortcut relation for all association path
2. extend OBAN model to allow the relation to be a list (interpreted as a chain)
Tending towards …
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We have no way to prioritise variants within an analysis node. This would be good to reduce classification work on medical scientists.
ACMG classifications have 5 levels of clinical significance, but…
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Hi,
I am attempting to annotate a customized VCF file using NCBI's GFF and (fna) FASTA files for the Newcastle disease virus (https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_004786615.1/). However, …
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- Atom level + residue/bases level
- `get_contact_atoms` in pdb2sql has already an `allchains` parameter.
- Do we want to indicate which chains should be considered for the interface? Or should we j…