Golden Helix Newsletter

Guest Post: Next Generation Variant Calling
by Jeffrey Rosenfeld, Bioinformatics Scientist at UMDNJ
Complete Genomics Caller

Just as the techniques for DNA sequencing are rapidly evolving, the algorithms for identifying variants between genomes are being continuously developed. Currently, the most highly-used variant callers focus strictly on calling SNPs with limited support for indels. In this post, we will outline some of the newer variant callers that go beyond the traditional model and use techniques such as de novo assembly or physical phasing in order to identify variants. These new approaches require greater computational resources, but the increased quality and power of the results can more than outweigh the costs. Continue reading »

Streamlined Workflow for Identifying Candidate Functional Polymorphisms
by Autumn Laughbaum, Product Quality Specialist

Since Dr. Ken Kaufman gave his webcast on Identifying Candidate Functional Polymorphisms in SVS, we've been working with Dr. Kaufman to simplify and automate many of the steps in his workflow. I'm excited to report that with Ken's help, we've been able to simplify the workflow even more. In particular we've been able to automate some of the steps to repeat automatically over all trios. Continue reading »

Election Season: Which Exome Chip Wins?
by Bryce Christensen, Director of Services
Election Season: Which Exome Chip Wins?

It has now been about a year since Illumina and Affymetrix announced their respective exome genotyping arrays. Both products were launched with ambitious visions of how they would enable researchers to learn significantly more about the cause of human diseases. So in the spirit of election season, I decided to research the candidates to see how they compare on some selected issues. Continue reading »
   Upcoming Webcast
DNA-Seq: Finding the Causal Variant of a Novel X-Linked Disorder
  Wed, Oct 24
12:00 pm EDT

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   New SVS Script
Calculate Alt Read Ratio Get it »

We're Hiring!
Open positions: Field Application Scientist and Statistical Geneticist.
Learn more »

Where will we see you?
21st Annual IGES & GAW
Stevenson, WA  |  Oct 18-20

ASHG 62nd Annual Meeting
San Francisco, CA  |  Nov 6-10

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Recent Customer Success Highlights

Nature Genetics
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation
Manjarrez-Orduno, N et al.
Feinstein Institute for Medical Research, New York
Read the article »

IGF2BP2 Alternative Variants Associated with Glutamic Acid Decarboxylase Antibodies Negative Diabetes in Malaysian Subjects
Salem, S et al.
University of Malaya, Malaysia
Read the article »

Both Baseline Clinical Factors and Genetic Polymorphisms Influence the Development of Severe Functional Status in Ankylosing Spondylitis
Schiotis, R et al.
University of Medicine and Pharmacy and SCBI, Romania
Read the article »

About Golden Helix
Founded in 1998, Golden Helix is known for helping genetic research groups working with large-scale DNA-sequencing or microarray data overcome the frustration and challenges of bioinformatic roadblocks: delayed projects, lack of quality findings, and low productivity. By empowering researchers with highly effective software tools, world-class support, and an array of complementary analytic services, we refute the notion that analysis has to be difficult or time consuming. Golden Helix's flagship software product, SNP & Variation Suite (SVS), is an integrated collection of powerful data management, quality assurance, visualization, and tertiary analysis tools for genetic data. SVS is delivered in a user-friendly, scalable platform and is supported by a team of highly trained bioinformaticians, statistical geneticists, and computer scientists that together make advanced statistical and bioinformatic methods accessible to scientists of all levels.


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