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The following annotations would be really useful for the non-redundant variants:
- overlap with genes
- repeat regions and segmental duplication regions
- overlap with known dosage sensitive gene…
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Unfortunately, some authors generate bogus HGVS expressions that use gene names rather than reference sequences. This issue should provide functionality to generate plausible expressions.
For examp…
reece updated
5 months ago
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Include:
- new disease terms or updates to DO's disease terms
there is a group of disorders termed 'RNA exosomopathies', which arise from pathogenic variants in RNA exosome genes
- include the…
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Clinical centers are recommended to check ACMG's incidental finding list (http://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/). It would be useful if Gemini facilitated this kind of query by either buildin…
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example if you go to gene
ENSG00000140505
then patient
PH0000043392
is listed in the variants but does not exist in patients table.
I'm guessing new schema will fix this as the gene API…
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Hi!
I used the following command to run the VarGen pipeline but I am getting the following error:
```
> disease_variants disease_annotation
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Hi guys!
I have some suggestions for improvement of the "Search SNVs and Indels" function which is actually a very useful tool to check mutation burden in a cohort compared to control cohorts.
h…
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```
{
"nodes": {
"n1": {
"categories": [
"biolink:Gene"
],
"ids": [
"NCBIGene:7252"
],
…
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Hi, thanks for your interesting tool!
I have been using cTWAS on a few datasets, and have got interesting results.
Overall, I have been able to run most parts of the analysis relatively smoothly.…
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It has clinical value to note compound variants for cancer as a two-hit model, not only recessive disorders.