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.
“Next-generation sequencing is providing researchers the ability to delve ever deeper into the genetic causes of disease, drug response, and other conditions”
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.
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