Our webcast yesterday featured two clinical workflows and and the ease in moving from an unfiltered variant file to a clinical report containing the variants of interest using VarSeq and VSReports. There were several great questions and I wanted to pass on a few of particular interest.

Question: Are annotation sources included in VarSeq for free?

Answer: Golden Helix provides the largest and most up-to-date repository of public annotations in our software, including VarSeq and VSReports. Moreover, we pay special attention to getting the details like left-aligning and multi-allelic splitting right so you can be sure that you are accessing some of the best public annotations available. We also verify that the data provided is accurate and represented in a way that can be used for annotating variants. And if we find problems, we go back to the source to fix these issues. If that is not possible, we fix the data ourselves before making it available on our public repository. Our dedication to annotation curation saves our customers countless man hours and hassle. VarSeq includes several public annotation sources such as ExAC, dbSNP, ClinVar, NCBI, COSMIC (just to name a few) free of charge. However, we do offer two non-public annotation sources (OncoMD and OMIM) to our VarSeq customers. OncoMD can be added for a small additional fee, while OMIM is included in VSReports.

Question: How long does it take to get from a VCF file to a final report?

Answer: The time it takes to get from a VCF file to a final report will vary based on what type of analysis you are running. For example, running gene panels will take you seconds to run with a report in just one click while whole exome data may take a few minutes, again, with a report one click away.

Question: Do you charge per sample or per report?

Answer: No, we do not. VarSeq and VSReports as well as all Golden Helix software is offered on an annual license subscription. Our users are free to run as many samples and generate as many reports as your research or lab requires.

If the questions above spark any other questions, please feel free to contact us at info@goldenhelix.com. We are glad to be of assistance!