Golden Helix Newsletter


DNA Variant Analysis of Complete Genomics' Next-Generation Sequencing Data
by Gabe Rudy, VP of Product Development DNA Variant Analysis

As I've mentioned in previous blog posts, one of the great aspects of our scientific community is the sharing of public data. With a mission of providing powerful and accurate tools to researchers, we at at Golden Helix especially appreciate the value of having rich and extensive public data to test and calibrate those tools. Public data allow us to do everything from testing the limits of our spreadsheet interface by importing whole genome samples from the 1000 Genomes project, to providing real-world data for incoming users to try full-feature examples of analysis workflows.

In our latest blog post, we examine the richness of Complete Genomics' public samples available from their website. I will lead you through a series of filtering routines to reduce the search space from millions of variants to something more manageable (2,500 variants), all while discussing interesting characteristics of the dataset, perhaps giving you ideas for exploring your next sequence project. Continue reading »

Hands-on Workshop: GWAS & Rare Variant Analysis Using SNP & Variation Suite
Presenter: Dr. Bryce Christensen, Statistical Geneticist
Date: August 24, 9 am - 1 pm  |  Location: USC, California
  Wed, Aug 24th
9 am - 1 pm
USC, California

Join us next Wednesday for a half-day workshop exploring GWAS and rare variant analysis at University of Southern California. Register by emailing us »

Please Help Me Get My Regression Model Set Up!
by Greta Linse Peterson, Scientific Quality Analyst

SNP & Variation Suite has a Regression Module to enable researchers with varying degrees of statistical knowledge to interrogate their data using regression models to account for potential confounding effects of covariates and interaction terms. While these tools are labeled "basic", they can be difficult to use and results hard to interpret for those who have only had a course or two in regression analysis. Continue reading »

   Featured Tutorial
NGS Variant Classification and Visualization Tutorial
View tutorial »

   New Add-On Script
Alternate Allele Frequency
Access all scripts »

SVS 7.5 Now Available
The fifth installment of SNP & Variation Suite (SVS) 7 fills out the Sequence Analysis Module premiered in version 7.4, giving you more ways to explore and analyze your NGS data to identify variants that matter. The Genome Browser has also received a lot of attention.
Read more »   |   View webcast »

Where will we see you?
International Genetic Epidemiology Society 20th Annual Conference
Heidelberg, Germany  |  Sept 18-20

American Society Human Genetics 61st Annual Meeting and the 12th International Congress of Human Genetics
Montreal, Canada  |  Oct 11-26

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Recent Customer Success Highlights

Cancer Epidemiology Biomarkers & Prevention
MicroRNA Processing and Binding Site Polymorphisms are not Replicated in the Ovarian Cancer Association Consortium
Permuth-Wey, J et al.
H. Lee Moffutt Cancer Center, Florida
Read the abstract »

American Journal of Human Genetics
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
Chen, J et al.
National Eye Institute, Maryland
Read the abstract »

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Genome-wide association analysis of age at onset in schizophrenia in a European-American sample
Wang, K et al.
East Tennessee State University, Tennessee
Read the abstract »

Human Genetics
Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity
Gautam, P et al.
Indian Genome Variation Consortium, India
Read the abstract »

PLoS Genetics
Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
Gorlova, O et al.
MD Anderson, Texas
Read the abstract »

World Journal of Biological Psychiatry
ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype
Lett, T et al.
Centre for Addiction and Mental Health, Toronto, Canada
Read the abstract »

About Golden Helix
We are inspired by significance. Not only statistical, but technological, scientific, and personal significance. It's embodied in everything we and our customers do. And we believe the only way to achieve significance is by transcending the status quo. Every day we strive for extraordinary analytic and technological advancements that empower scientists around the world to pursue that which is truly significant: from uncovering the genetic causes of disease and transforming drug discovery to developing genetic diagnostics and advancing the quest for personalized medicine. To learn more about how we are accelerating the quest for significance visit


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