Jonatan Gonzalez Rodriguez
Jonatan Gonzalez Rodriguez
Hello! Upon using SURVIVOR to merge 2 VCF files from the same caller, I've noticed that the `DR` field always report `0,0` despite the reads information being available in both...
Hello, I'm trying to generate HVGSg notation from some structural variants and translating them into HGVSc but for this I need the transcripts with the corresponding version, meaning the number...
Hello! I've seen in the changelog that for DUPs the start position was changed from 0-based to 1-based. What's the case for the rest of the variants, are they 0-based...
Hello! I'm working with corrected long reads and found something odd when working with cuteSV on this data. And that is the fact that when you check some SVs in...
Hello, I've noticed that some variants are reported as PRECISE and with a PASS filter but when taking a look at the alignment in the IGV the position reported is...
* vcfpy version: 0.13.3 * Python version: 3.6.1 * Operating System: Linux (Ubuntu) ### Description I'm having a hard time understanding why there is a mapping of escape characters, because...
Hello! I was wondering if the start and end positions reported in the VCF are 0-based or 1-based. Best regards, Jonatan
Hello! I've noticed on running `svim alignment` that despite providing the reference that the reads were aligned to, all the reference alleles in the output VCF file are `N`. Is...
Hello! Are there any plans on uploading the v2.0.0 of svim to conda to make it easier to implement in pipelines? As of now the latest version available in conda...
Hello! I think it'd be a good thing to implement the ability to specify the name or at least a prefix of the output file, in case multiple files are...