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Golden Helix Debuts First Integrated Toolset for NGS Variant Analysis

Enables tertiary analysis of DNA sequence data in a comprehensive framework


Bozeman, Mont (January 27, 2011) — Golden Helix, Inc. today announced the release of a new Sequence Analysis Module for its SNP & Variation Suite software. The new module introduces innovative tertiary analysis methods for next-generation DNA sequencing studies.

For the first time, in a single, integrated desktop solution, researchers will be able to interactively analyze hundreds to millions of common and rare variants to assess their impact on disease and other traits.

The analysis of sequence data can be categorized into the three stages: primary, secondary, and tertiary analysis.  Primary analysis is defined as the machine-specific steps needed to call base pairs and compute quality scores for those calls. In secondary analysis, these raw reads are aligned or assembled, and variant calls made in the form of single nucleotide variants, smaller insertions or deletions (indels), or larger structural variants such as transversions, translocations, and copy number variants.

Tertiary analysis diverges into the spectrum of study-specific investigations based on the more manageable set of differences between the sequenced samples and the reference.

“Next-generation sequencing is providing researchers the ability to delve ever deeper into the genetic causes of disease, drug response, and other conditions,” stated Christophe Lambert, founder and CEO of Golden Helix. “But most efforts in the DNA space have focused on aligning or assembling raw reads and generating variant calls. Beyond single purpose tools, there simply haven’t been comprehensive, integrated solutions created for tertiary analysis, the ‘sense making’ part of the process. Our new module leverages the easy-to-use, comprehensive aspects of our existing tools, empowering a broader community of researchers to capitalize on all that next-gen sequencing has to offer.”

With the sequencing solution, researchers can:

  • Easily import, manage, and manipulate millions of variants for small numbers or thousands of samples
  • Quickly sort through millions of variants, filtering out those that are common, benign, poorly covered, or irrelevant
  • Find genes or regions with an abundance of variants in a given sample set
  • Assess rare variant burden using powerful collapsing and association methods
  • Understand the contribution of rare variants using functional prediction

Golden Helix's sequence analysis solution is available now and is compatible with variant files from most major sequencing platforms.


About the SNP & Variation Suite
SNP & Variation Suite is the most powerful and integrated collection of high-performance analytic tools for managing, analyzing, and visualizing large-scale, complex genomic data. It's fast, easy-to-use, and runs on conventional desktop computers enabling researchers to interact with their data as never before. Both statistically and visually, researchers can explore the relationships among vast amounts of clinical patient data, environmental factors, and genetic variants to understand the cause of disease and other inherited traits - all without writing a single line of code or buying expensive hardware. Applications include candidate gene analysis, genome-wide association studies, copy number analysis, cytogenetic research, and next-generation sequencing studies.


About Golden Helix
Golden Helix is a leading bioinformatics organization, specializing in sequence and array-based SNP and copy number analysis, genetic association software, and analytic services. Our innovative technologies empower scientists to determine the genetic causes of disease, transform drug discovery, develop genetic diagnostics, and advance the quest for personalized medicine. Used by hundreds of researchers at the world's top pharmaceutical, biotech, and academic research organizations, Golden Helix products and services have been cited in over 300 peer-reviewed publications.

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Media Contact:
Jessica Vionas
Marketing Coordinator
Golden Helix, Inc.
406-585-8137 x214
vionas[at]goldenhelix.com

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