Author Archives: Jami Bartole

About Jami Bartole

Jami Bartole came aboard Golden Helix in 2012 and is currently our Senior Field Application Scientist. Prior to that, Jami worked at the University of Montana – Helena College as a Mathematics Instructor and at the Montana Department of Justice as a Quality Assurance Auditor. Jami completed her Masters in Mathematics from Montana State University – Bozeman and her BS in Mathematics from Montana Tech – Butte. In her free time, Jami enjoys reading and spending time with her friends and family.

Coming Soon! The genome Aggregation Database (gnomAD)

SVS platform

Ever since the MacArther Lab announced the new gnomAD browser at last year’s ASHG conference, we have had many requests from our customers to make this new variant frequency source available within both VarSeq and SVS. This new dataset includes variants obtained from 123,136 exome sequences and 15,496 whole-genome sequences. In comparison to the original ExAC dataset which contained exomes… Read more »

New Tutorial: VarSeq CNV Caller

cancer gene panel tutorial

The new VarSeq CNV Caller Tutorial covers the basics of the VarSeq CNV calling algorithm, with an emphasis on visualization and interpretation of results. This workflow requires an active VarSeq license with the CNV Caller on Target Regions feature included. You can go to Discover VarSeq or email info@goldenhelix.com to request an evaluation license with the CNV functionality included. The… Read more »

Adding RSIDs to your SVS marker mapped spreadsheet

SVS platform

In the new Genotype Imputation tool that is coming soon to SVS, allele encoding is an important part of matching data between the target and the reference panels. If the same platform provider is being used, then A/B encoding can be used. However, it’s better to use the Reference/Alternate allele encoding associated with AGCT format to ensure accuracy. If an… Read more »

Using Assessment Catalogs in your VarSeq workflow

Variant Assessment Cataloug

Variant interpretation is an integral part of any workflow that results in some decisions being made about the validity and suspected functional impact of a variant in a given sample and their presenting phenotypes. The VarSeq Assessment Catalog functionality is designed to assist the VarSeq user in streamlining this process. To include this functionality in your workflow, you will first… Read more »

Exporting Data From VarSeq to Excel

FAQ

True to its nature, VarSeq offers multiple data export options. You can export result tables from VarSeq to Text, VCF, a VarSeq annotation file and most importantly an XLSX (Excel) File. VarSeq’s Excel export options provide a lot of flexibility in the information that is exported and preserve the formatting of data during the export process from VarSeq to Excel. This… Read more »