Variant Reporter™ Software v1.0

The Variant Reporter™ Software performs comparative sequencing, also known as direct sequencing, medical sequencing, PCR sequencing and resequencing with DNA sequencing files. The software is designed for reference based and non-reference based analysis such as mutation detection and analysis, SNP discovery and validation and sequence confirmation. The robust algorithms will call SNPs, mutations, insertions, deletion and heterozygous insertions⁄deletions for data generated using the Applied Biosystems Genetic Analyzers.

• Handle greater that 10 times more sample files than competing software products
• Reduce labor and project cost with accelerated data review
• Improve your results with fast, accurate heterozygote calling
• Simple to learn – requires less than one hour
• Robust data filtering with new more effective quality metrics

Save Time
Manually reviewing your resequencing results requires valuable time and reduces productivity. Variant Reporter™ Software v1.0 does it all for you, quickly, efficiently, and accurately. Designed for basic and clinical researchers engaged in genotyping projects, as well as core resequencing labs whose focus is secondary analysis, this new variant detection software solves the workflow bottleneck caused by the 3–8 hours often required by other software products for data analysis and review. And with your resequencing workflow fully automated, you are free to concentrate on other aspects of your project.

Simple Workflow
To set up a project, simply import and group traces into amplicons and specimens. The analysis parameters can be adjusted and a reference defined, although the data can be analyzed with or without a reference. The software automatically groups traces into specimens and amplicons based on sample file name parsing. Next, analyze your project. After analyzing the data, the software calculates the project-quality statistics and generates an overview of the project data quality. If samples pass QC thresholds, the software will skip this step. Users can also drill down to review the quality of specimens, amplicons, or individual traces. The software contains all the viewing and reporting functionalities of Sequence Scanner Software.

A Choice of Reports
Users can select from the following reports and exports:
• Project Summary Report: Contains high-level project statistics, lists of variants and genotypes, and snippets of each variant
• Quality Report: Provides a comprehensive view of trace, specimen, amplicons, and project quality
• Specimen Report: For clinical researchers interested in reporting data one subject at a time, this report provides specimen statistics, specimen genotypes, and snippets of each variant for one or all specimens in a project.

Use in Resequencing Applications
Resequencing – also known as comparative, direct, medical, or PCR sequencing – is useful for discovering variants, including HIMs, insertions, deletions, SNPs, and genotypes. The process begins when a researcher chooses a gene of interest, isolates DNA from the gene, amplifies one or more amplicons for each exon, and then performs cycle sequencing using the BigDye™ Terminator Cycle Sequencing Kit, followed by cleanup with the BigDye™ XTerminator™ Purification Kit. The sample is then run on an Applied Biosystems capillary electrophoresis instrument. During the final step, Variant Reporter Software discovers the variants, determines the genotypes, and creates a report. That’s all there is to it.

For Research Use Only. Not for use in diagnostics procedures.