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Hi there,
I am trying to integrate a newer version of the IMGT Database for my analysis but there seems to be an issue at the DRB1 locus. I downloaded the database from: ftp://ftp.ebi.ac.uk/pub/data…
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Goals: Learn how to call variants and visualize data with IGV.
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**Is your feature request related to a problem? Please describe.**
Tandem duplication of exon 13 of UBTF has recently emerged as an important driver in pediatric AML. The mutation is also found in ad…
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Hello!
I've been trying to resquiggle some files using graphmap and found a peculiar behavious of tombo. It hangs on some files. The progress bar stops moving, while tombo processes are still using…
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Hello,
I have a question regarding the use of normal samples in ScanNeo2.
According to the information provided in the data section of the wiki, it states:
"In addition, normal allows to specif…
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Dear @pkrusche and team,
I have done an analysis with Deepvariant variants called from a genome in a bottle sample. I did the analysis with hap.py with a singularity pulled docker taken from docke…
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Hi there,
Thank you for your program! I've succesfully compiled the code and tested it on the provided examples . However, when testing it on independent data (using hg19.fa and a VCFv4.1 output fr…
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Hi there,
I'm using SAIGE v1.0.4 with conditional analysis. This works well when I have a set of variants, but when there is only one variant in the condition (e.g. --condition=1:1:C:T) I get this …
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See parent GitHub Issue `133`.
[CFAR dbGaP](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001788.v1.p1&phv=404381&phd=&pha=&pht=8818&phvf=12&phdf=&phaf=&phtf=&dssp=1&cons…