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pseudomaker cannot handle mendelian errors in CHP markers. @gaow
I tried to add '--skipmendelerrors', it didn't work.
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Hi，
Thanks for developing this user-friendly tool. I installed the software on the basis of your guidline. When i run "**phython3 probedesign.py**" . Type "**human、input_human_genes.txt、20、20、65、75**…
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Allow for search by rsid ( rs6594027 ), this will search column ID in variant table
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Hi, I have just started to use your permutation test package. I am not a programmer, so it took a bit of time to figure out how to download and install on my system, where it is not standardly present…
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Hi,
I am working on converting variants of different formats to gDNA variants I found some items gave different results:
commandline (version : 2.3.4)
```
hanh@cpuserver:/data/home$ transvar p…
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The description NC_000017.11(NM_000154.1):c.[700del];[(?_945-7)_(*64del_?)] describes allelic variants in the _GALK1_ gene leading galactokinase 1 deficiency. The first variant is a straightforward si…
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### Issue description
The CDR allows for italics in headings (section titles), but the italics does not display on the live Cancer.gov site. The italics does not display in Publish Preview either.
…
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For example [CYP2C9*1](https://www.pharmgkb.org/clinicalAnnotation/1451092541).
Look into the data and discuss how we should represent these.
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Hi,
I am having an issue with the extraction of the RD and AD genotype tags in my input VCF file to the 'gt_ref_depths' and 'gt_alt_depths' columns of my gemini database. I am using gemini (v0.8.0) o…