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Clinical Significance - current clinical significance does not adequately support the needs for somatic variant information.
- Current set of values defined by LOINC
![image](https://github.com/Co…
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Several mongo queries are really slow which occasionally can cause timeout issues for users.
The general issue are that many queries uses $and/$or statements which require mongo to evaluate all cas…
mhkc updated
12 months ago
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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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Hi @jgust1,
I hope you're doing well!
After downloading the tar file from your page using the following command:
```
wget https://s3.amazonaws.com/1000g-ont/needLR/needLR_local.tar.gz
tar…
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### Background
Following Variation Set discussions at the Boston Plenary, it was decided that VR will only provide a model for **static** Variation Sets - as simple objects holding just an enumerated…
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Hi all.
As has been discussed previously we in Umeå has started to work on an extension that will enable 3rd party variant interpretation tools integration in scout. But we have also received fund…
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Hi,
I have been running InterVar to annotate my variants and I have realized that in the `annovar` subprocess, dbnsfp33a and dbnsfp31a_interpro are used, both of which add one column named `Inter…
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Clinical Significance should mention the new Oncogenic evidence type
>Positive or negative association of the Variant with predictive, prognostic, diagnostic, or predisposing evidence types. If the v…
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These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.
- [x] PS1 - "Same amino acid change as a previously established pathogenic variant regardless of nucleotide …
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Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…