Golden Helix Newsletter

Precision Medicine
Meta-Analysis is now available in SVS!
by Greta Linse Peterson,
Director of Product & Quality

Earlier this spring we announced that Meta-Analysis was coming to SVS very soon. Now, I am pleased to announce that it is available in the latest release of SVS (version 8.4.0).

Meta-Analysis takes the results of two or more GWAS studies for multiple SNPs or markers, and standard meta-analysis statistics are then performed on each SNP and the results compiled into one spreadsheet.
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Summer Savings
Special Summer Savings!

For many of us, summer is a time relax and take a well deserved break from the hustle and bustle of the year. The summer lull also presents a great time to get to the things you have been putting off all year.

For those of you spending some time this summer tackling your to do list, we wanted to remind you we are offering the best prices of the year on SVS, VarSeq and VSPipeline! Simply follow the link below to request your quote.
Request Pricing! »

Dr. Folefac Aminkeng Publishes in Nature Genetics
by Cheryl Rogers,
Director of Marketing

Today I wanted to take a moment to recognize a long-time Golden Helix customer, Dr. Folefac Aminkeng of the Canadian Pharmacogenomics Network for Drug Safety and the University of British Columbia on his recent publication A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer, in Nature Genetics.

Aminkeng and his colleagues performed a genome-wide association study in 280 patients treated for childhood cancer to investigate the susceptibility to anthracycline-induced cardiotoxicity (ACT).
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Tumor/Normal Pair support now available in VarSeq!
by Bryce Christensen,
Director of Services & Statistical Geneticist

VarSeq now supports analysis of paired Tumor/Normal samples! Tumor/Normal support has been one of the most common feature requests for VarSeq since it was launched late last year, and we are excited to make this functionality available to all of our VarSeq users in the latest update (version 1.1.4). VarSeq is a powerful platform for annotation and filtering of DNA sequence variants from many different study designs.
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Analyze Your 23andMe Genotype Files with Golden Helix
by Gabe Rudy,
VP of Product & Engineering

I was definitely an early adopter when it comes to personal genomics. In a recent email to their customer base announcing their one millionth customer, they revealed that I was customer #44,299.

And I have been consistently impressed with the product 23andMe provides through their web interface to make your hundreds of thousands of genotyped SNPs accessible and useful.
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The 10th Anniversary of GWAS
by Bryce Christensen,
Director of Services & Statistical Geneticist

GWAS became possible about 10 years ago as the result of several scientific advances. Since then, GWAS has continually developed as a primary method for identification of disease susceptibility genes in humans and other organisms.

At Golden Helix we are proud of our history in supporting GWAS analysis from its inception. Our software was used to analyze whole-genome data from the groundbreaking Affymetrix 10k SNP chip even before the chip's commercial launch, and well before the NHGRI-EBI GWAS catalog keeps records. Among papers included in the GWAS catalog, Golden Helix citations appear as early as 2007.
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   CEO Corner
Andreas Scherer
August has been an exciting month at Golden Helix, with updates to our software such as incorporating meta analysis into SVS and Tumor/Normal Pair support into VarSeq. Continuing this trend, we are launching our new VarSeq product with coverage statistics at the end of the month. This is another highly requested feature that is very important for clinical users and another step towards empowering precision medicine.

   Latest Webcast
Pharmacological Induction of FoxO3 is a Potential Treatment for Sickle Cell Disease
Although individuals with sickle cell anemia ostensibly have a monogenetic disease, they exhibit wide variability in the degree of clinical severity. One of the most powerful and reproducible predictors of disease severity is the level of endogenous fetal hemoglobin (HbF), composed of two gamma-globin and two a-globin chains. Expression of HbF is reduced in infancy and little is known about how this regulation is accomplished. A better understanding of gamma-globin regulation could aid in the discovery and design of a specific gamma-globin inducing agent.

Taking a genomics approach to this question, Dr. Vivien Sheehan and her team investigated the natural human variation and its correlation with HbF levels to identify novel genes important for gamma-globin regulation. In this webinar, she describes how they performed whole exome sequencing (WES) and used gene-based analysis to find correlations between rare variants and endogenous HbF levels.

View recording »

   Customer Success

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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.