Golden Helix Newsletter


"Dammit Jim, I'm a doctor, not a bioinformatician!"
by Christophe Lambert, CEO & President Dr. McCoy

Do you ever feel like Dr. McCoy on Star Trek, where your job and expertise is to do x, but to achieve your goals you also have to do y and z, which you either don't want to do or don't have the skills to do? Genetic researchers are faced with this every day as they are expected to design experiments, develop methods, write software that will perform these methods, teach students, write grants, work towards tenure, make life-changing discoveries, follow statistical best practices, and, in their spare time, publish regularly. What are the causes and symptoms of this reality? And what is the effect these demands have on productivity?

I'll first summarize the topic at a high level and then drill down into the many facets of the systemic problems our field faces for research productivity. We'll then look at the obstacles to productive bioinformatics-driven genetic research through the lenses of skillset, mindset, toolset, and their interactions. Then we'll explore how facets of the academic toolset and mindset are at cross-purposes with reproducible research and explain how this, in turn, inhibits our practice of the scientific method and its concomitant productivity. Continue reading on "Our 2 SNPs" »

Summary and Q&A: "A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans"
by Jessica Vionas, Marketing Coordinator

The common disease-common variant hypothesis has established the foundation of SNP-basis genome-wide association studies for the last several years. However, with few strong associations found, researchers are beginning to consider the effects of rare variants through the burgeoning availability of DNA sequencing. Qianqian Zhu and Dongliang Ge, of the Center for Human Genome Variation at Duke University, and others recently published on this topic in the American Journal of Human Genetics in the article titled, "A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans." I recently sat down with Bryce Christensen, Golden Helix' Director of Services, to chat about the article. Continue reading on "Our 2 SNPs" »

   New Add-On Script
Add Gene Names to Marker Map

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   Featured Tutorial
Video Tutorial: Genetic Association in Complex Disease
This extended video tutorial covers a SNP analysis workflow on a whole-genome scale.

View tutorial »

Baylor and Golden Helix Collaborate on Methods for Rare Variant Analysis
Baylor College of Medicine and Golden Helix announce the availability of the Combined Multivariate and Collapsing (CMC) and the Kernel Based Adaptive Cluster (KBAC) methods in SNP & Variation Suite (SVS). CMC and KBAC are powerful and flexible methods of analyzing rare DNA sequence variants.
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Recent Customer Success Highlights

The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population
Bae, J et al.
Sogang University, Seoul, Korea
Read the article »

Evidence for a SULT4A1 haplotype correlating with baseline psychopathology and atypical antipsychotic response
Ramsey, T et al.
SureGene, Louisville, Kentucky
Read the abstract »

Psychiatric Genetics
Association study of RELN polymorphisms with schizophrenia in Han Chinese population
Li, W et al.
Xinxiang Medical University, China

Genetic variations in the transforming growth factor beta pathway as predictors of survival in advanced non-small cell lung cancer
Lin, M et al.
University of Texas MD Anderson Cancer Center, Houston, Texas
Read the abstract »

Journal of Korean Medical Science
Association of IL10, IL10RA, and IL10RB Polymorphisms with Benign Prostate Hyperplasia in Korean Population
Yoo, K et al.
Kyung Hee University, Seoul, Korea
Read the abstract »

Neuromolecular Medicine
No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease
Abramsson, A et al.
University of Gothenburg, Sweden
Read the abstract »

Statistics in Medicine
Perspectives on genome-wide multi-stage family-based association studies
Van Steen, K
University of Liege, Belgium
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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