Wednesday, April 6th 12:00 pm EDT As the number of samples and associated data volume in a testing lab increases, it becomes imperative for labs to leverage state of the art warehousing technology that not only organizes data, but also aides and enables researchers and clinicians to perform further analysis, and ongoing research. Built on the algorithms and high-performance storage… Read more »
Customer success is very important to us at Golden Helix. Every month we showcase their success by putting together a blog post highlighting the most recent publications. We have been compiling this list since 2003 (you can find the full list here). Today, I am very honored to announce that the Golden Helix software has assisted in one thousand publications. We have enjoyed… Read more »
Concepts and Relevance of Genome-Wide Association Studies Genome-Wide Association Studies continue to be a very effective method for determining the underlying cause of disease, Golden Helix is happy to share our long-standing knowledge with the community. We are very happy to announce that “Concepts and Relevance of Genome-Wide Association Studies”, a paper surrounding GWAS was recently published in Science Progress… Read more »
Recently, we were excited to find a new example data set for cancer gene panels. We have included this example data in the latest e-book by Dr. Andreas Scherer, Genetic Testing for Cancer as well as in the latest cancer webcast . This data is from Illumina’s MiniSeq sequencer and the TruSight Cancer panel. The BAM and VCF files for three samples… Read more »
Headed to Tampa! For the first time, Golden Helix will be attending the Annual Clinical Genetics (ACMG) meeting. This year, the meeting is being held in Tampa, Florida and we are excited to visit with our customers and meet new people in the field! Where to Find Us You can find the Golden Helix team in booth #435 in the… Read more »
We want to say congratulations to all of our customers who have recently published! It’s always great to see all the new research and advancements our clients are doing, and how the Golden Helix software is assisting in that. With that, here are the most recent customer publications for the month! L. Nguyen and Russel Lyons of the University of… Read more »
Benjamin Darbro, MD, PhD at the University of Iowa, uses VarSeq® software for Clinical Testing Founded by Hans Zellweger in the 1960’s, The Shivanand R. Patil Cytogenetics and Molecular Lab at the University of Iowa has a long history of clinical testing, seeing 45 years of advancements. Today, the lab is mainly focused on oncology, pre and post-natal genetics testing… Read more »
Wednesday, March 2nd 12:00 pm EST Clinical labs must have the ability to go from a collection of samples and associated variants to a professional report documenting a short list of clinically relevant variants. Cancer Gene Panels are a common clinical application for genetic tests. In this webcast we will show how VarSeq and VSReports can be used to go… Read more »
As VarSeq continues its adoption amongst clinical labs and researchers looking for reproducible workflows for variant annotation, filtering and interpretation, we have continued to prioritize the addition of features to assess the quality of the upstream data at a variant, coverage and now sample level. The Importance of Quality Assurance Sample prep and sequencing problems are difficult to detect through the analysis… Read more »
Yesterday, it was my pleasure to share in a live webcast our integrated solution for genetic data warehousing, VSWarehouse. If you missed the webcast live, feel free to check out the recording. Although we had a great set of questions at the end of our presentation, we didn’t have time to answer all of them, so here is a selection of… Read more »
Hope everyone’s new year is off to a great start! Golden Helix has been having wonderful start and have so much to look forward throughout the year. We wanted to share with you the list of our first round of customer publications for 2016, enjoy! Petra Werner of the Children’s Hospital of Philadelphia and colleagues published MESP1 Mutations in Patients with Congenital… Read more »
So, why are we launching a new data warehouse product? Why did we build VSWarehouse? According to Grand View Market Research, the next generation sequencing (NGS) market size was $2.0 billion (USD) globally in 2014. This number is expected to grow from 2015 to 2022 at an annual rate of about 40%. What drives this phenomenon is the increasing number… Read more »
There is no doubt that we have big data in the field of genomics in general and Next Generation Sequencing specifically. Illumina’s latest HiSeq X can produce 16 genomes per run, resulting in terabytes of raw data to crunch through. Yet all that crunching is not the hard part. So, what is the main obstacle to scientists being able to… Read more »
Golden Helix in 2016 We had a terrific year 2015. It was the year in which we got serious about the clinical testing market. We successfully continued on the path of attracting more referenceable clients such as University of Iowa, Baby Genes, Prevention Genetics and many more. We rounded out our VarSeq suite by adding more clinically relevant features and… Read more »
Recent Customer Publications We hope everyone had a Merry Christmas! The Golden Helix team is looking forward to the start of a new year, but first we wanted to share our last round of customer publications from 2015. Here’s to many more in 2016! Bishwa Sapkota and Dharambir Sanghera of the Oklahoma University Health Sciences Center and colleagues published The Genome-wide Association Study of… Read more »
With the release of VSReports, we added the ability to “select” rows of your filtered output (often variants, but potentially things like coverage regions or genes) with a new feature dubbed “Record Sets”, but more often described as “colored checkboxes” for your tables. Although necessary for the important task of marking primary, secondary or other sets of variants for a… Read more »
Our webcast yesterday featured two clinical workflows and and the ease in moving from an unfiltered variant file to a clinical report containing the variants of interest using VarSeq and VSReports. There were several great questions and I wanted to pass on a few of particular interest. Question: Are annotation sources included in VarSeq for free?
While VarSeq comes with a number of starter workflows that are stored as templates, customers also have the option of creating filter chains from scratch; analyzing a single exome may require you to do exactly that. In this blog, I’ll go through analyzing a single exome and generating a list of variants for further study. After importing the variant data… Read more »
The Golden Helix® team is gearing up for ASHG 2015 in Baltimore as I would guess many of you are too. I for one am super excited since I grew up in the Baltimore area and have a fondness for Inner Harbor and crabs! This year, you will find Ashley Hintz (our Field Application Scientist) and myself just inside the… Read more »
The 65th annual ASHG in Baltimore will be another exciting one. We at Golden Helix have been very busy this year making great improvements to both SVS and the VarSeq software and we look forward to showcasing them during our in-booth demos. In particular, we will launch two new additions to the VarSeq software suite; VSReports and VSWarehouse. VSReports brings highly customizable clinical… Read more »
