Springtime for SVS: Updates to PhoRank, Platform Support and Genotype Imputation

SVS platform

Recently, we added a natively supported Genotype Phasing and Imputation capability in SNP & Variation Suite 8.7.0. Since then we have had fantastic feedback and adoption as folks take advantage of the BEAGLE 4.0 and 4.1 algorithms from within their existing SNP GWAS and agrigenomic workflows. One piece of feedback we heard from our time at PAG, ACMG and our… Read more »

CNV Analysis in VarSeq – A User’s Perspective

User's Perspective

We are pleased to announce our next webcast, CNV Analysis in VarSeq – A User’s Perspective. The live event is is scheduled for Wednesday, April 19th at noon EST. Here are the specifics: Wednesday, April 19th 12:00 pm EST Clinical labs must have the ability to go from a collection of samples to a professional report documenting a short list… Read more »

Recent Customer Success

      Mary Makris    April 4, 2017    No Comments on Recent Customer Success
customer

We are kicking off the second quarter with a round of recent customer publications. There are a few new faces represented below, and we are delighted to share their success with you. We hope you find their research as interesting as we do! Peter Harris of Mayo Clinic and colleagues published PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation,… Read more »

Updating VarSeq’s Transcript Annotation along with NCBI RefSeq Genes Interim Release

transcription annotation

It may be possible to say that annotating a variant correctly and accurately against gene transcripts is the most important job of a variant annotation and interpretation tool. We take it very seriously at Golden Helix as we support VarSeq and its use by our customers in both research and clinical contexts. It has been a source of frustration that… Read more »

Final thoughts on ACMG 2017

      Andreas Scherer    March 28, 2017    No Comments on Final thoughts on ACMG 2017
ACMG 2017

Last week was fast and furious for those of us who made it to Phoenix attending ACMG 2017. The event was exceptionally well attended, with great talks and sessions. Here are some of the highlights that are worth mentioning from our perspective. Numerous talks referenced how important the updated Exac/gnomAD database is for clinical NGS analysis. The new dataset includes… Read more »