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I'm running PASTA thus:
`
python pasta/run_pasta.py --num-cpus=6 --aligner=HOMOLOGS --merger=MUSCLE --tree-estimator=RAXML -i simulated_reads/x.fa --alignment-suffix=HOMOLOGS.MUSCLE.RAXML.x -j HOMOL…
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```
At the moment, the ontology assumes that there are two copies of each allele.
This is not necessarily the case for some pharmacogenetic alleles, where copy
number variation is relatively common …
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* **Do you want to request a *feature* or report a *bug*?**
Reporting a bug
* **What is the current behavior?**
Reporter fails in `research` mode for `CYP2D6`
* **If the current behavi…
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For this disease:
https://monarchinitiative.org/disease/OMIM:608902
the top matching hits for this one are all > 100%.
this is all very odd, considering there is only one phenotype, and it very loo…
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The additional meta-data on genetic variants is very limited. A detailed encoding of genetic variants is required which we then reference when encoding genetic variants of genes. Pharmvar just lunched…
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## Type: Bug Report
## URL: https://ui.test.transltr.io/main/results?l=Paroxetine&i=CHEBI:7936&t=3&r=0&q=45f60838-5834-4ccd-a580-e21611cf1124
## ARS PK: 45f60838-5834-4ccd-a580-e21611cf1124
## Steps…
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Hi,
I am having an issue with longshot not calling SNPs that I know to be true. They seem to be filtered out based on strand bias (FILTER sb).
I'm using the following command:
longshot -r CYP2D…
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I have a problem running your script! I used the following line:
`
python bin/PGxPOP.py --vcf ./prueba/C11_v1.vcf.gz.tbi --phased --g CYP2D6 --build hg19 -o ./prueba/`
And I have the following li…
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```
At the moment, the ontology assumes that there are two copies of each allele.
This is not necessarily the case for some pharmacogenetic alleles, where copy
number variation is relatively common …
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Hello there,
while testing Cyrius v1.1.1 on CYP2D6-calling on samples from [GeT-RM](https://www.ebi.ac.uk/ena/browser/view/PRJEB19931) I encountered something unexpected. On a [publication](https:/…