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## Describe the issue
NC_000003.11:g.128204049_128206714del is annotated as a HIGH impact splicing variant when an explicit REF/ALT is supplied, but is annotated as a LOW impact variant w/o splicin…
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Hi,
I have generated a PFB file for Illumina GSA from 1000 sample.
Illumina GSA has approximately 600 000 markers. When the PFB is compiled, it only has 123 000.
Then when I call detect_cnv I get t…
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Hello!
I am trying to get the Seabird python module to work that I installed using PIP. In command line when i write "seabird," it shows seabird help. But when using seabird commands like "C:\seabird…
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We are using Python SemVer to to compare workflow/tool version strings in CGP, and SemVer doesn't approve of the CNV version number 'v1.0.5'. Would you please remove the 'v' prefix on the version num…
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Hello All,
I am excited by infercnv but have some rather basic questions for you, reflecting my lack of a strong bioinformatics/programming background. Please bear with me...
I posted this questio…
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Hi,
I was testing Spectre latest release using mosdepth output and by submitting the following commandline:
`CNVCaller --coverage test_Q20.regions.bed.gz --sample-id test --output-dir CNV_Callin…
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There appears to be no "E_Multiple_observations" entries for GRCh38 1000genomes phase3 vcfs. I checked phase3 vcfs for release91 and release99 from ENSEMBL.
Is there an alternative method to generat…
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As seen in https://jel.ly.fish/support-thread-1-0-0-front-cnv-df90bgt, the bluetooth cache bind mounted in the state partition is not being cleaned up and the MAC addresses of old paired devices accum…
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Hello,
I noticed the current version is 1.15.0 and I want to install verion 1.13.0. But when I tried to install by typing 'BiocManager::install(pkgs='infercnv')' in R, version 1.12.0 was installed …
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Currently the cytoband information is defined in the config, and this adds yet another file that must be added if these are to be visualised. It should be possible to guess the genome version from the…