Search results for “Cancer”

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 →

Recent Publications from SVS Users

Apr 25, 2017

We had lots of customers publish their work 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…

Read more →

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

Mar 30, 2017

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…

Read more →

4th Annual Abstract Challenge Winners

Feb 23, 2017

This year’s annual Abstract Challenge was once again a successful event. We want to thank all that participated. This year we had nearly 50 submissions and our decision was a difficult one. Here are the selected winners. This year, we had dual first place winners; Reza Sailani and Jingga Inlora of…

Read more →

NGS-Based Clinical Testing: Part VI

Jan 26, 2017

With a properly defined wet-lab and bioinformatics process, we are able to zero in on clinically relevant variants. How does a lab report on the outcome of their analysis? We find that most laboratories conduct their variant classification based on the guidelines formulated by the American College of Medical Genetics…

Read more →

Fighting Childhood Leukemia at St. Justine

Jan 19, 2017

Acute lymphoblastic leukemia (ALL) is the most frequently diagnosed cancer in children and one of the leading causes of death due to disease in children. Dr. Daniel Sinnett, along with Pascal St-Onge and their colleagues at Sainte-Justine University Health center have been investigating the molecular determinants of the disease to…

Read more →

Utilizing VSReports in Your Clinical Workflow

Jan 12, 2017

Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical decision making and streamline patient care by seamlessly incorporating the results of tertiary analysis into…

Read more →

Case Study: Children’s Hospital Los Angeles

Dec 6, 2016

Dr. Laura Li and her colleagues at the Children’s Hospital Los Angeles (CHLA) are working to determine the underlying genetic causes of Optic Nerve Hypoplasia (ONH), which is still unclear. ONH is the absence or under-development of the optic nerve and is currently the leading ocular cause of vision impairments…

Read more →

WEBCAST: CNV Analysis with VarSeq

Nov 22, 2016

December’s webcast will provide the Golden Helix community with a more in-depth look at CNV analysis in VarSeq. On December 7th, Dr. Nathan Fortier will discuss the challenges and metrics surrounding CNV detection and then demonstrate VarSeq’s new capability from VCF to clinical report.  Wednesday, December 7th @ 12:00 PM, EST Numerous…

Read more →

Why Call CNVs: Getting More from your NGS Data

Oct 11, 2016

Copy Number Variants have been important to clinical genetics for quite a while now. So, what has made now the right time to be looking at calling CNVs from NGS data? Well, there are a number of good reasons. The dominant one is simply that the NGS data you are…

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 →

Personalized Medicine through Tumor Sequencing

Aug 23, 2016

Join us for a guest presentation Personalized Medicine through Tumor Sequencing by Dr. Jeffrey Rosenfeld! Wednesday, September 7th 12:00 pm EDT The identification of medications that target specific gene mutations is one of the major recent advances in cancer therapy. In 2001 Gleevec was approved to treat patients with the BCR-ABL fusion…

Read more →

Our 5 Most Watched Webcasts

Jul 21, 2016

Every month hundreds of clinicians and researchers access the variety of free resources on the Golden Helix website. Our resource library hosts eBooks, webcasts and tutorials to keep the community apprised of new methods, informed on best practices and to help our customers get the most out of their software purchase.…

Read more →

Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Jul 14, 2016

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront…

Read more →

Variant Normalization: Underappreciated Critical Infrastructure

Jul 7, 2016

Variant Normalization: Underappreciated Critical Infrastructure It may surprise you to learn that every variant in the human genome has an infinite number of representations! Of course, although true, I’m being a bit hyperbolic to prove a point. Even seemingly simple mutations like single letter substitutions are legitimately represented differently in…

Read more →

Bioinformatics Program Key in Precision Medicine

Jun 21, 2016

The Bioinformatics Program at Rutgers Cancer Institute of New Jersey, the state’s only National Cancer Institute-designated Comprehensive Cancer Center, plays an integral part in the center’s precision medicine program helping to bring personalized medicine to patients in a timely manner. The Program needs to determine what mutations from a tumor…

Read more →

N-of-One Integration comes to VSReports

Apr 28, 2016

Submit directly to N-of-One from VarSeq If you or your lab uses N-of-One solutions for clinical annotations, here’s some good news: You can now submit directly to N-of-One from VarSeq! N-of-One’s set of preferred transcripts may differ from those outputted by our algorithms in VarSeq, so our solution was built…

Read more →

Clinical Reports – New & Improved Templates!

Apr 14, 2016

Clinical reports come in all shapes, sizes and flavors. With that in mind, our clinical reporting interface VSReports was built to be highly customizable and flexible.  With a little Javascript and HTML know-how, your clinical reports can be customized to meet the needs and goals of your lab. With a little…

Read more →

Guest Presentation by Dr. Folefac Aminkeng

Apr 7, 2016

Dr. Folefac Aminkeng, first place winner in this year’s Abstract Challenge, will present his work to the community via a live webcast on Wednesday, April 20th at noon EDT.  Dr. Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in…

Read more →

Announcing VSWarehouse – Golden Helix’s Data Warehouse Solution for genomic data

Jan 21, 2016

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…

Read more →