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Hi GWAS Team,
We are in the process of reviewing the logic of certain steps of our pipelines. For this, I need some help from you to better understand the data I could download from the GWAS Catalo…
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I've got another one to really think about...
I was playing around with HTT (huntingtin) gene which has a mismatch between genome and transcript because both reference sequences have a different nu…
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hi, when using -3 parameter, i got some confused variants.
reference genome: hg38
vardict-java with -3 parameter , i got this mutation :
chr17 39724742 . A AGCATACGTGATG 188 PASS SAMPLE=0280…
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I've started a run of graphtyper with a command for each chromosome of my reference:
graphtyper genotype --threads 16 --verbose --sams=bamlist --region=H1_8_48-4_1 REF.fna
graphtyper genotype --thre…
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I've got WGS samples without a reference from normal samples and would like to create a "flat"reference.
Following the documentation I use the following code to generate the reference:
```
cnv…
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Title: SARS-CoV-2 escape in vitro from a highly neutralizing COVID-19 convalescent plasma
# General Information
## Please paste a link to the paper or a citation here:
Link: https://www.bio…
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Hi Joelle,
I was trying to run some gene-based tests on an unbalanced (398 cases and 401739 controls, so roughly 1:1000) binary trait (either `spa` adjusted or `firth` / `approx` flags). However, …
Ojami updated
2 years ago
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Check if it still applies:
https://rmagno.eu/gwasrapidd/articles/faq.html#5-genomic-coordinates-of-genomic-contexts-seem-to-be-wrong-
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The position converter for the version 2 of mutalyzer was great at distinguishing between transcripts, but now does not seem to provide that function easily. Is it possible to have the previous featur…
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**Describe the bug**
I believe @beboche mentioned this before, but perhaps that was over email and not as an issue because I can't find it.
I've been breaking my head for hours on why I get random…