Optimizing your CNV Analysis in VSWarehouse

VSWarehouse Updates

We recently hosted a webcast covering the value and application of VSWarehouse through VarSeq. Not only is VSWarehouse a solution for storing your NGS data in a central repository, but it also provides a means to enhance the tertiary analysis done in VarSeq. VSWarehouse will store all your sample/variant data but also stores your catalogs of pathogenic variants, clinical reports, and has the capability of filtering/querying on all your stored data quickly. In addition,… Read more »

Storing your CNV & ACMG Results in VSWarehouse – Webcast Q&A

This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing support@goldenhelix.com. To what level does the Warehouse scale? We have tested multiple instances of Warehouse in-house and on the cloud and it scales incredibly well to tens of thousands of samples and 100s… Read more »

Headed to San Diego, CA for ASHG 2018

As we are beginning to welcome the crisp fall weather here in Montana, we cannot wait to make an escape to the warm, sunny weather of San Diego, CA for the American Society of Human Genetics Annual Meeting (ASHG 2018). We are looking forward to spending the week discussing with new and familiar faces within the genetics industry. If you… Read more »

Using the GRCh38 Reference Assembly for Clinical Interpretation in VSClinical – Webcast Recap

VCF file format

Even though GRCh37 is currently the most widely used human genome assembly, GRCh38 provides a more complete human reference genome, offers more accurate genomic analysis, and includes centromere and mitochondrial information. However, we’re getting ahead of ourselves. Perhaps start with how we got here. The Human Genome Project started this all off with the world’s largest biological collaboration project in… Read more »

Using the GRCh38 reference assembly for clinical interpretation in VSClinical: Webcast Q&A

This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing support@goldenhelix.com. Does VSClinical come with support for the new reference genome? Yes! We worked hard to make everything work in VSClinical regardless of your choice of reference genomes. The only caveat is that… Read more »