Golden Helix Newsletter

ASHG 2015
Concepts and Relevance of GWAS
by Andreas Scherer,
CEO & President

We are excited to announce that "Concepts and Relevance of Genome-Wide Association Studies", a paper surrounding GWAS was recently published in Science Progress. Genome-Wide Association Studies continue to be a very effective method for determining the underlying cause of disease, and Golden Helix is happy to share our long-standing knowledge with the community.

The paper was written by Dr. Andreas Scherer, our CEO and President at Golden Helix and Dr. Bryce Christensen, formerly of Golden Helix.
Read the full publication here »

Summer Savings

Cancer E-Book � 2nd Edition
by Andreas Scherer,
CEO & President

In 1914, the German cytologist Theodor Boveri coined the phrase "Cancer is a disease of the genome". At this time, his ideas were as equally revolutionary as they were highly contested. Fast forward. More than a hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells.

I fully believe that next-generation sequencing will rapidly become a powerful tool for the personalized diagnosis and management of cancer. Download the full e-Book! »

Case Study: Clinical Testing at the University of Iowa
by Cheryl Rudy,
Director of Marketing

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 and serves the University of Iowa Hospitals and Clinics as well as the University of Iowa Stead Family Children's Hospital. In last year alone they have performed over 5,500 clinical tests.

When the lab's director, Dr. Benjamin Darbro purchased Illumina's NextSeq 500, he did so with the vision of being able to offer phenotype-focused gene sequencing panels.
Continue reading »

Quality Assurance Sample Statistics Added To VarSeq
by Aiden Bickford,
Software Engineer

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.

Sample prep and sequencing problems are difficult to detect through the analysis of individual variants alone. Variant attributes used to measure quality such as read depth and alternate allele frequency only apply to that variant and the individual reads used to make the call. In order to detect low quality samples, metrics must be used that take all of the variants reported into account.
Continue reading »

Customer Spotlight � Dr. Kazima Bulayeva
by Cheryl Rogers,
Director of Marketing

We, at Golden Helix, would like to take the time to highlight one of our long time customers on her recent success. Since the beginning of 2015, Dr. Kazima Bulayeva of the Vavilov Institute of General Genetics (VIGG), has published in 10 scientific publications including two times Nature Genetics. We are very excited to share the research she is performing using the Golden Helix software with the community.

Dr. Bulayeva is a research professor at VIGG, which is the longest standing institution of Genetics in the Russian Academy of Sciences.
Continue reading »
   CEO Corner
Andreas Scherer
The first quarter of 2016 has been full of exciting events at Golden Helix. First and foremost, we are happy to announce that our software has been cited in 1,000 of our customer's publications. This a big milestone, and it's an honor to share in our customer's success. Read more on this topic in our blog post here. Additionally, early in March we attended ACMG 2016 and presented our fully-integrated clinical stack. It was met with excellent feedback, and we are looking forward to the upcoming official release of VSWarehouse!

  New Projects in VSViewer!
Bundle Offer
Cancer Gene Panel Project

The cancer gene panel workflow example takes the variants from all six samples and after applying quality filters to remove suspect variant calls, it filters the variants down to a short list of possible somatic mutations associated with cancer. From here, three oncogene mutations are identified and a clinical report is automatically generated. This report can be exported as a PDF and included in an electronic medical record, or shared as an HTML.

Tumor-Normal Project
The tumor-normal workflow takes a matched tumor-normal exome pair for a single patient. After performing standard quality control measures we are able to remove any variants present in the tumor sample that are present in the normal sample. By doing this extra filtering step we can identify potential somatic mutations by using the normal sample as a control.

Download the VSViewer here!

   Customer Success: 1,000 Pubs!
This month Golden Helix reached the 1,000 citations mark! We are delighted that our software has been a part of our customer's research and efforts leading to publication, and we are looking forward to the next 1,000.

Here are 3 noteworthy publications from the past year:

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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and clinical and translational medicine for over 16 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With our solutions, hundreds of the world's top pharmaceutical, clinical laboratories, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for precision medicine. Golden Helix products and services have been cited in over 900 peer-reviewed publications.