Search results for “CNV”

Secondary Analysis 2.0 – Part III

Aug 8, 2017

Detection of CNVs in NGS Data Our secondary analysis 2.0 blog series continues with Part III: Detection of CNVs in NGS Data. We will give you an overview of some design principles of a CNV analysis framework for next-gen sequencing data. CNV detection is one of the more nuanced challenges…

Read more →

Secondary Analysis 2.0 – Part II

Aug 1, 2017

In this blog series, I will discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNV) and copy number variations (CNV) in one test leveraging next-gen sequencing. Modern NGS analysis pipelines integrate these steps to efficiently process high-throughput sequencing data.…

Read more →

Clinical Workflows Webcast Q&A

Jul 13, 2017

In case you missed our live event yesterday, I wanted to share the Q&A session and a link to the webcast recording: An Exploration of Clinical Workflows in VarSeq. Question:You mentioned saving projects as templates, will it save GenomeBrowse plots in the project template or do you have to replot the…

Read more →

Golden Helix, Inc. – Your Annotation Curation Station

Jun 15, 2017

The current reduced cost and increase availability of genome sequencing has been making academics, clinicians and individuals alike excited with the possibility of increased research depth, diagnosing capability and personal curiosity. And although a freshly sequenced genome is chock-full of tasty letter snippets, the real revelation and education occurs when…

Read more →

End-to-End Solution for Clinical Labs Webcast Q&A

Jun 8, 2017

Yesterday’s monthly webcast featured our end-to-end solution for clinical labs. In case you missed it, you can watch the webcast here! 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. Can you go over the requirements…

Read more →

Final thoughts on ESHG 2017

Jun 6, 2017

We are back from another exciting trip to ESHG, hosted in Copenhagen, Denmark last week. We were delighted by the number of researchers and clinicians we were able to connect with. Needless to say,  the weather was outstanding in Copenhagen, which made our stay even more pleasant! Even though this was a European…

Read more →

Webcast: Golden Helix’s End-to-End Solution for Clinical Labs

May 25, 2017

We are ending the first half of the year with a webcast featuring our entire clinical software stack: Golden Helix’s End-to-End Solution for Clinical Labs. This webcast is scheduled for Wednesday, June 7th at noon EST, and it’s not one you’ll want to miss! Here are the full details: Wednesday, June 7th…

Read more →

Golden Helix announces Partnership with Sentieon

May 1, 2017

Today, we are happy to announce a multi-year partnership with Sentieon, a company that develops bioinformatics secondary analysis tools to process genomic data. This partnership will integrate Sentieon’s secondary analysis tools with Golden Helix software to provide users with a comprehensive solution for genomic data analysis. Sentieon’s suite of secondary analysis…

Read more →

Final thoughts on ACMG 2017

Mar 28, 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…

Read more →

We’re heading to Phoenix for ACMG 2017

Mar 16, 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…

Read more →

Recent Customer Success

Jan 31, 2017

Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below: Reza Sailani of Stanford University and…

Read more →

What to expect from Golden Helix in 2017

Jan 17, 2017

The year 2017 is starting fast and furious for us here at Golden Helix. We just announced a new imputation capability for our SVS product. At the same time, members of our team are on the way to PAG in San Diego to network with our clients in the Plant…

Read more →

See you in Vancouver for ASHG 2016!

Oct 13, 2016

It’s hard to believe that summer has already faded into fall and that ASHG 2016 is right around the corner! 2016 has been quite a busy year for us so far at Golden Helix. We have been working hard to bring our community the very best tools available for variant…

Read more →

NGS-Based Clinical Testing: Part IV

Sep 6, 2016

After the Wet Lab process has been completed, the bioinformatics analysis of the sequencing data work begins. The next three blogs will focus on three aspects of this process. The building blocks of a bioinformatics pipeline, documentation and validation (today’s topic) Quality Management Clinical Reporting The Building Blocks of an NGS…

Read more →

June’s Customer Publications

Jun 23, 2016

As spring ends and summer begins here in Montana, we wanted to share another round of customer publications. It’s so important to us that our software plays a role in our client’s success, and we love to display the fruit of their hard efforts each month. Here are a few of…

Read more →

The Clinical Genome Conference 2015 Highlights

Jun 30, 2015

This last week I had the pleasure of attending the fourth annual Clinical Genome Conference (TCGC) in Japantown, San Francisco and kicking off the conference by teaching a short course on Personal Genomics Variant Analysis and Interpretation. Some highlights of the conference from my perspective: Talking about clinical genomics is…

Read more →

Guest Post: Finding Rare Pieces of Hay in a Haystack

Aug 19, 2013

Utilizing Identical Twins Discordant for Schizophrenia to Uncover de novo Mutations We are living in exciting times – the reality of high-resolution Cand individual genome sequencing now offers renewed hope in the search for the causes of complex diseases. When this technology is combined with genetic relationships, individual sequences add…

Read more →

Agrigenomic Researcher at U.C. Davis, Gonzalo Rincon, DVM, and Colleagues Publish 14 Articles and Obtain 2 Patents Using SVS

Jun 13, 2012

Editor’s Note: This case study was written while Dr. Gonzalo Rincon was with the University of California, Davis. Dr. Rincon is now working as a Principal Investigator in Animal Genetics at Zoetis. Gonzalo Rincon, DVM is a Project Scientist in the Medrano Lab, part of the Department of Animal Science,…

Read more →

Why You Should Care About Segmental Duplications

Jun 6, 2012

My work in the GHI analytical services department gives me the opportunity to handle data from a variety of sources.  I have learned over time that every genotyping platform has its own personality.  Every time we get data from a new chip, I tend to learn something new about the…

Read more →

Sequence Analysis Methods Not Just for Sequence Data

Oct 12, 2011

Speaking as somebody with a long history in data analysis, there are few things I find more exciting and tantalizing than new analysis methods that might apply to a problem I am trying to solve or was unable to solve in the past.  Whenever I make a breakthrough in one…

Read more →