More powerful rare variant analysis and visualization techniques

We are proud to unveil SNP & Variation Suite (SVS) 7.5!

The fifth installment of SVS delivers the most powerful rare variant analysis tools with the latest advances in tertiary or “sense making” methods for DNA next-gen sequencing. This release also adds some cool and productive features to our popular Genome Browser. Here they are in nutshell:

More powerful rare variant analysis
With the Sequence Analysis Module in 7.5, you can:

• Focus in on truly damaging variants, such as splice site mutations and insertions or deletions that cause frameshift errors, by classifying variants based on their potential effect.
• Visualize SNVs and indels in the genome browser to compare pattern differences among sample groups and identify regions of high mutation burden.
• Assess rare variant burden using new CMC and KBAC collapsing and association methods.
• Efficiently import a wider variety of VCF files and variant files from Complete Genomics.

Improved visualization
Cornerstones of SVS, the Genome Browser and other visualizations received two substantial upgrades in 7.5:

• Easily search for genes, RSID#s, and other genomic features of interest and immediately navigate to their location.
• Quickly compare differences among sample subgroups with integrated coloring, grouping, and filtering in all plots.

Below is the press release. Find out more information on our What’s New web page or join us on August 3rd at noon EST for an hour-long webcast showing off the new features!

We hope you enjoy working with version 7.5 as much as we enjoyed creating it. …And that’ s my 2 SNPs.

Golden Helix Announces Launch of SNP & Variation Suite 7.5

Bozeman, MT (July 27, 2011) – Golden Helix announced today the fifth installment of its SNP & Variation Suite (SVS) 7, a unique set of software tools designed to easily analyze, visualize, and manage large-scale sequence and array-based genomic data.

“As next-gen sequencing investigations begin to yield results, the need for analytical tools capable of exploring and representing those data has grown,” says Josh Forsythe, Golden Helix Vice President of Sales and Marketing. “SVS 7.5 meets this need by providing researchers a complete suite of tools to support DNA resequencing and variant analysis workflows, and also includes performance upgrades requested by our active user community.”

SVS 7.5 contains a selection of powerful new rare variant analysis and statistical workflows, as well as flexible visualization tools and enhanced control over annotation track searches. Combined with regular web-based updates and committed customer support, SVS 7.5 is an optimal analytical solution for researchers grappling with intensive data output from complex genomic studies.

Rare Variant Analysis
Golden Helix’ latest offering expands on the Sequence Analysis Module first included in SVS 7.4 by offering several new collapsing methods for sequence analysis in addition to features capable of importing, managing, and visualizing large sets of variants.

Rare variant analysis workflows in SVS 7.5 have been augmented by the addition of the Kernel-Based Adaptive Cluster (KBAC) test as well as the latest regression-based versions of both Combined Multivariate and Collapsing (CMC) and KBAC methods. These statistical methods, integrated into SVS 7.5 with guidance from their developer, Suzanne Leal of Baylor College of Medicine, can be applied to detect associations between complex disease phenotypes and rare variants while correcting for confounding variables, or even to glean more information from prior GWAS studies.

SVS 7.5 also features improved support for variant classification which helps bring order to large lists of variants and includes support for insertions and deletions regardless of format. SVS also offers more options when importing VCF files to capture all input file details, as well as the ability to import Complete Genomics VAR files. Moreover, researchers interested in coding resequencing data for SNP analysis can take advantage of a novel bi-allelic expansion feature.

Single Nucleotide Variants (SNVs), along with Insertions/Deletions (InDels), can be further visualized with the Variant Map feature included in SVS 7.5. Variant Maps present color representations of SNVs, InDels, and mix substitution variants by analyzing each marker in the source spreadsheet, comparing alleles to a reference base. As Gabe Rudy, Golden Helix’ Vice President of Product Development, explains:

“By capitalizing on the human eye’s knack for pattern recognition, the Variant Map feature allows to you to quickly drill down to chromosomes or genes that have a high mutation burden for one group of samples or another. This empowers you to start looking at data in a very exploratory way.”

Enhanced Visualization Techniques
Data exploration in SVS 7.5 has been enhanced by upgrades to its fully integrated Genome Browser, developed to provide gene and genetic position context information through the incorporation of numerous data repositories. Contextual web links are also available for connecting to the Internet for information about a specific range or position in a chromosome with the click of a button.

In this release, the Genome Browser is now able to conduct global and track-based searches, allowing quick navigation to annotated gene features. Updated coloring and grouping controls, applicable to Variant Maps, Heat Maps, and other plots, extend control over graph visualizations and empower researchers to filter, color, and split results as desired.

Additional Features
SVS 7.5 features many new statistical and visual tools to bring order to data, including:

• Variant classification features optimized for large-scale lists of variants
• Collapsing methods for sequence analysis, including regression-based CMC and KBAC
• Ability to filter by PolyPhen2 functional effects prediction score
• Ability to handle Complete Genomics VAR file formats
• Bi-allelic expansion to encode resequencing data
• Variant maps for introspective data visualization
• Genome Browser search interface for annotation tracks
• Coloring, grouping, and filtering controls
• Additional support for the GFF/GTF annotation format

About 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 500 peer-reviewed publications.