Mutation Surveyor® DNA Variant Analysis Software

Mutation Surveyor software includes patented anti-correlation technology, which physically compares sample sequence traces to a reference trace, providing accuracy up to 99.5% with Phred 20 bi-directional sequences and a sensitivity of 5% of the primary peak.

A Unique tool for DNA Variant Analysis from Sanger Sequencing Traces

Mutation Surveyor® software is a powerful and accurate DNA Sequencing analysis tool for Sanger Sequencing files generated by the following electrophoresis systems:

• Applied Biosystems Genetic Analyzers
• Beckman CEQ
• Promega Spectrum Compact CE System

Capable of performing variant analysis of up to 2000 Sanger sequencing files (.ab1, .RSD, .ESD & .scf) in 15 minutes, Mutation Surveyor delivers excellent accuracy, sensitivity, and low false-positive and false-negative rates in the analysis of DNA variants, including:

• Single nucleotide polymorphisms (SNPs)
• Homozygous insertions and deletions (indels)
• Deconvolution and detection of heterozygous indels
• Somatic mutations in direct sequencing.

The Mutation Surveyor package includes patented anti-correlation technology (U.S. Patent 8,086,410), which physically compares sample sequence traces to a reference trace, providing accuracy up to 99.5% with Phred 20 bi-directional sequences and a sensitivity of 5% of the primary peak.

Along with increased accuracy and sensitivity, Mutation Surveyor software features many tools:

• Custom reporting
• Automated download of annotated GenBank reference files
• DNA methylation detection
• Mitochondrial DNA sequence analysis
• Allele quantification
• Variant Knowledge Database

Mutation Surveyor software includes features designed to enhance and optimize the process of variant discovery in Sanger sequencing traces. The software can automatically align traces to GRCh37 or GRCh38 GenBank references. And the variant knowledge database allows users to track variants by chromosomal position, indicate false positives and other artifacts, and query mutation annotation information from popular variant databases such as dbSNP, dbNSFP, ClinVar, and gnomAD.

Also included in Mutation Surveyor software is an intuitive user management system, which enables administrators to set up password-protected user names, control access rights, and generate a user audit trail. Access rights for each user are determined by the administrator, providing assurance that unauthorized individuals do not accidentally alter a project or change the analysis parameters established by the laboratory. User management also provides the user ID in the header of the final reports.

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Application Notes:

• DNA Mutation and Methylation Quantification Application Note
• Heterozygous DNA INDEL Application Note
• NGRL Technology Assessment
• Sequence Assembly Application Note
• Somatic Mutation Detection Technical Note
• UPMC Validation Poster
• Genetic Diversity Application Note
• Hypervariable Mutation Detection
• Methylation Detection Application Note
• Mitochondrial DNA Sequence Analysis using Mutation Surveyor® Software
• Variant Knowledge Base with External Annotation
• User Management with Audit Trail

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