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Hello -- just learning and may not know sytack -- but the example
```python
up:Disease_Annotation {
a [ up:Disease_Annotation ] ;
up:sequence [ up:Chain_Annotation up:Modified_Sequence ] ;
…
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Hi, We ran the gene burden test with the following command and found that some variants that were included in all the input files got excluded from the built mask (the .snplist output) or the final .R…
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From @AlistairNWard -
We should look into the use of this database of splice variants (free for academic use) in the RNA app.
Barry, do we have many confirmed diagnostic splice variants in NeoSeq /…
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To incorporate the PharmGKB API as described in https://github.com/biothings/BioThings_Explorer_TRAPI/issues/556, we need node normalizer to resolve PharmGKB identifiers for genes, diseases, variants,…
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Change gene.iobio to show variants and depth (from alignments) for genes on alternate contigs.
For example, gene GSTT1 for build GRCh38 (RefSeq transcripts), the app is not able to display variants…
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Trying to extract a vcf out of an annotated file (single sample). The number of entries is smaller than the ones in gui (excel, tsv are correct).
This is true when reports are obtained from gui as w…
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As requested at https://github.com/TranslatorSRI/NodeNormalization/issues/171:
> To incorporate the PharmGKB API as described in https://github.com/biothings/BioThings_Explorer_TRAPI/issues/556, we…
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Hi,
I am currently attempting to perform an association analysis on noncoding regions using WES data. However, while executing 379 array jobs, some of the jobs failed with an error. Could this iss…
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We have recently requested some new terms for gene related disorders. One of them is a developmental and epileptic encephalopathy and we have suggested the MONDO:0100062 as a parent term. The first pa…
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Hi Joelle,
I hope you're well. I'd be grateful if you could please help me with a problem in gene based burden testing using the --rgc-gene-p command.
The output to the console reports no issue…