Category Archives: News, events, & announcements

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 »

WES Research at Stanford University

Join our upcoming webcast : Wednesday, April 5th 12:00 pm EST Dr. Reza Sailani is a Research Fellow in the Genetics department at Stanford University. To provide an overview of his research, Sailani will present on the following two recent studies he has conducted: Association of AHSG with alopecia and mental retardation (APMR) syndrome: Alopecia with mental retardation syndrome (APMR) is… Read more »

PreventionGenetics adopts Golden Helix CNV analysis

Partnership with Sentieon

Today, I am happy to announce the introduction of VS-CNV for Gene Panels and Exomes. We have developed this capability in partnership with PreventionGenetics. PreventionGenetics will use VarSeq CNV for analysis of gene panels, and in the future for exome sequencing. The software gives PreventionGenetics the opportunity to conduct a comprehensive CNV analysis on NGS data, in many cases eliminating the need… Read more »

We’re heading to Phoenix for ACMG 2017

ACMG 2017

ACMG 2017 is just around the corner! We are halfway through March already and it’s just about time to head off to sunny and warm Phoenix, Arizona. While the temps have been mostly mild for the last few weeks in Montana, I bet those of you in the northeast are looking forward to your time in Phoenix! You will find… Read more »

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 »