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This is not #968
The attached file (created with the portable version 7.5) contains a simulation ‘Man’ that has two metabolism processes.
The individual has two enzymes, one only in liver that i…
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* **Do you want to request a *feature* or report a *bug*?**
bug
* **What is the current behavior?**
For the provided sample, PharmCAT is calling the CYP2D6 diplotype as `*4/*4`, but in addi…
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Hello,
I would like to have your help on understanding the CYP2D6 genotyping result that's seemingly incorrect.
I ran pb-StarPhase for a trio and observed a mendelian error as follows.
proband:…
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I downloaded the R1 and R2 fasta files for this sample referenced in the paper. I aligned the reads with sentieon bwa mem, produced a valid BAM/BAI file. When I ran star_caller.py, I ended up with t…
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What does the option `--max-memory` do?
I am getting Killed signal because of out of memory but I already set this option so it seems it's not working.
`python /phasebook/scripts/phasebook.py -i…
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Hi,
Im getting this error despite everything properly, such as WGS bam file.
python3 star_caller.py --manifest /media/sf_Shared/Cyrius-master/caller/tests/test_data/NA23275.bam --genome 37 --pre…
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### On REF/ALT alleles
**Source : VEP**
rs758320086
rs72549351
rs730882170
**Source : UCSC**
rs3832694
rs72466463 [ has merged into rs587778873 ]
rs5030656
rs72549380
rs8175347 !!
rs3215983
rs28399…
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Latest GPML for [pathwayPA145011109](https://www.pharmgkb.org/pathway/PA145011109) is obsolete.
Use this instead: [PA145011109-new.gpml](https://drive.google.com/a/pharmgkb.org/uc?export=download&id=1…
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https://www.illumina.com/science/genomics-research/articles/CYP21A2.html
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Example MESH descriptors for Imatinib in DrugBank:
|ID|Label|
|--|--|
|id:mesh/D000146|Acids, Carbocyclic|
|id:mesh/D000577|Amides|
|id:mesh/D000970|Antineoplastic Agents|
|id:mesh/D001549|Ben…