Golden Helix, Inc. announced the release of a new Sequence Analysis Module for its SNP & Variation Suite software that introduces tertiary analysis methods for next-generation DNA sequencing studies. Researchers can 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.
With the sequencing solution, researchers can import, manage, and manipulate millions of variants for small numbers or thousands of samples; 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; and understand the contribution of rare variants using functional prediction.