Golden Helix Newsletter


Updates to CNAM Make SVS the Fastest and Most Accurate Copy Number Tool for Common and Rare CNVs
by Bryce Christensen, Director of Services Updates to CNAM Make SVS the Fastest and Most Accurate Copy Number Tool for Common and Rare CNVs

SNP & Variation Suite (SVS) version 7.4 introduced an impressive array of new features that were not available in previous versions. New features range from major items like the all new Sequence Analysis Module to new shortcut keys and subtle improvements in infrastructure that most users will never notice. We created a list of over 50 new or updated features, but even that list is not complete and does not capture the extent of the work performed by our development team. I applaud them for their efforts. Today, I'd like to specifically review some of the new and updated features for copy number analysis that are present in version 7.4. Continue reading on "Our 2 SNPs" »

Checking Relatedness and-or Inbreeding in Samples as a Quality Assurance Measure
by James Grover, Senior Computer Engineer
James' whiteboard with IBD calculations

Almost every statistic that is used for significance testing in scientific research comes with a set of assumptions. If the test is applied to data that does not meet those assumptions, then the results of the test may not be valid. In the GWAS paradigm, the assumption of independent observation means that the observed genotypes must come from unrelated subjects in a random mating population. If subjects are related to one another, then their genotypes will of course be correlated, and the distribution of genotypes used in the test will not appropriately reflect the genotype distribution in the population. Consanguinity, or inbreeding, can similarly influence GWAS tests by violating the assumption of random mating. Continue reading on "Our 2 SNPs" »

Getting Your Research Questions Answered Quickly with the Various Golden Helix Support Mediums
by Greta Peterson, Scientific Quality Analyst

At Golden Helix, we place a strong emphasis on customer support and helping our customers use the software to the best of their abilities to answer any research questions they have. Due to such a strong emphasis on customer and technical support, there are numerous sources of help available. It can be confusing trying to determine where to go to first for help, especially in the support climate of today that tries to distance the user from a real person. I'd like to help you figure out how to navigate our multiple support mediums. Continue reading on "Our 2 SNPs" »

   Featured Tutorial
Sequence Analysis Tutorial
View tutorial »

   New Add-On Scripts
  • ANOVA scripts
  • Filter by SIFT Synonymous Classification
  • Nonparametric Tests
  • Import PennCNV
Access scripts »

Do you have SVS 7.4?
With over 30 new features, the fourth installment of SNP & Variation Suite 7 will empower you to explore your data as never before.

What's new:
  • Breakthrough tertiary analyses for next-gen sequencing data
  • New state-of-the-art GWAS and CNV quality assurance
  • Significantly faster, and more in-depth copy number workflows
  • More powerful genome browsing
Find out more »

Ready for an in-depth look?
Check out our new video tutorial covering a SNP analysis workflow on a whole-genome scale including analysis prep, QA, genotype association, and regression analysis. View video »


Recent Customer Success Highlights


12.30.10  |  Molecular & Cellular Toxicology
Association of Niemann-Pick disease, type C2 (NPC2) polymorphisms with obesity in Korean population
Kim, S et al
Kyung Hee University, Seoul, Korea
Read the abstract »


1.4.11  |  European Journal of Human Genetics
Notch Homolog 4 Polymorphism and Kawasaki Disease
Kang, S. et al
Kyung Hee University, Seoul, Korea
Read the abstract »

1.7.11  |  Occupational and Environmental Medicine
GSTP1 polymorphism modifies risk for incident asthma associated with nitrogen dioxide in a high-risk birth cohort
Carlsten, C. et al.
University of British Columbia, Vancouver, Canada
Read the abstract »

1.10.11  |  Genes, Brain, and Behavior
Association study of catechol-O-methyltransferase gene polymorphisms with schizophrenia and psychopathological symptoms in Han Chinese
Chen, C. et al
Tri-Service General Hospital, Taiwan
Read the abstract »

1.19.11  |  The Journal of Immunology
The IL1RN Promoter rs4251961 Correlates with IL-1 Receptor Antagonist Concentrations in Human Infection and Is Differentially Regulated by GATA-1
Carrol, E. et al.
University of Manchester , UK
Read the abstract »

1.21.11  |  Rheumatology International
Lack of association between promoter polymorphisms of HLA-G gene and rheumatoid arthritis in Korean population
Kim, S. et al.
Kyung Hee University, Seoul, Korea
Read the abstract »

1.25.11  |  American Journal of Geriatric Psychiatry
Circadian Clock Gene Polymorphisms and Sleep–Wake Disturbance in Alzheimer Disease
Yesavage, J. et al.
Stanford University, California
Read the abstract »

1.29.11  |  Human Genetics
Mutations in Fanconi anemia genes and the risk of esophageal cancer
Akbari, M. et al.
University of Toronto, Canada
Read the abstract »

1.29.11  |  Pediatric Cardiology
Coding Single-Nucleotide Polymorphisms of Interleukin-1 Gene Cluster Are Not Associated with Kawasaki Disease in the Korean Population
Kim, S. et al.
Kyung Hee University, Seoul, Korea
Read the abstract »

2.4.11  |  Pharmacogenetics and Genomics
Genetic variation associated with bortezomib-induced peripheral neuropathy
Favis, R. et al.
Johnson and Johnson Pharmaceutical Research and Development, Raritan, New Jersey
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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