I performed an analysis of the snp.vcf file and realized that although the variantes are correctly annotated the SNPID is missing. This is in particular true for SNPID with higher numbers, so that I assume that an outdated SNP reference database is used.
Relevant log output
Here are some examples:
Correctly annotated and the correct SNPID attached with the following SNPs
snpid alleles reference alternatives
5930 (A, G) A (G,)
5927 (A, G) A (G,)
Correctly annotated but the proper SNPID missing are tzhe following variants
rs45508991, rs72658861, rs11669576
Application activity log entry
There is nothing unusual. The output is of a normal basecalling.
Were you able to successfully run the latest version of the workflow with the demo data?
Operating System
Ubuntu 22.04
Other Linux
No response
Workflow Version
latest
Workflow Execution
Command line (Local)
Other workflow execution
No response
EPI2ME Version
No response
CLI command run
Workflow Execution - CLI Execution Profile
standard (default)
What happened?
I performed an analysis of the snp.vcf file and realized that although the variantes are correctly annotated the SNPID is missing. This is in particular true for SNPID with higher numbers, so that I assume that an outdated SNP reference database is used.
Relevant log output
Application activity log entry
Were you able to successfully run the latest version of the workflow with the demo data?
yes
Other demo data information