New Tutorial: VSWarehouse

      Steven Hystad    April 27, 2017    No Comments on New Tutorial: VSWarehouse
cancer gene panel tutorial

The new VSWarehouse Tutorial covers the basic VSWarehouse workflow.This tutorial focuses on connecting to a VSWarehouse instance from VarSeq, adding an existing VSWarehouse project as an annotation source and using reports and assessment catalogs hosted on VSWarehouse. This workflow requires an active VarSeq license with the VSWarehouse feature included. You can go to Discover VarSeq or email info@goldenhelix.com to request an… Read more »

Recent Customer Publications

      Mary Makris    April 25, 2017    No Comments on Recent Customer Publications
customer

Several of our customers have published recently using our SVS software, and I wanted to share their work with you. Congrats to all! Here are some of the highlights: Francesca Fernandez of the University of Wollongong along with colleagues published Effects of common GRM5 genetic variants on cognition, hippocampal volume and mGluR5 protein levels in schizophrenia in Brain Imaging and Behavior… Read more »

CNV User Perspective Webcast Q&A

CNV User

Nathan Fortier’s webcast yesterday, CNV Analysis in VarSeq – A User’s Perspective, was an excellent demonstration of our CNV capabilites, so check it out here if you missed it. There were a number of questions asked in the live event, so in today’s blog post I wanted to recap the Q&A session. Question: Do the reference samples have to be from the… Read more »

Identifying genetic variants associated with rare Mendelian Diseases

genetic variants

We are pleased to announce our next webcast, Identifying genetic variants associated with rare Mendelian Diseases. The live event is is scheduled for Wednesday, May 3rd at noon EST. Here are the specifics: Wednesday, May 3rd 12:00 pm EST Dr. Jingga Inlora is a postdoctoral fellow in the Snyder lab at Stanford University. In this webcast, Inlora will present on… Read more »

By Popular Request: Our BEAGLE Algorithm Gains Support for Family Structure

family structure

Earlier this year we released our own optimized and integrated BEAGLE implementation for SVS based on the BEAGLE 4.1 and optionally 4.0 algorithms. One of the commonly requested features since that released was to expand the algorithm implementation to be considerate of the parent-offspring relationship between samples to inform and improve the accuracy of the haplotype phasing.  With this information,… Read more »