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Reference Assembly

Following analysis of DNA variants from Sanger Sequences, Mutation Surveyor (compatible with all major capillary electrophoresis sequencing platforms, such as the Applied BioSystems’ Genetics Analyzer, MegaBACE and Beckman Coulter CEQ system) provides unique contig reference assembly and review which may negate the need to have additional software packages such as SeqPilot, Sequencher® or DNAStar. Mutation Surveyor can present an overlapping contig view of an individual’s contigs, an overlapping view of a whole gene or a multiple patient view of the same contig. The viewer is hyperlinked to the actual electropherograms permitting quick and easy confirmation of analysis; edits can be made in this view, and also exported in many formats.

The Project Reviewer is a tool in Mutation Surveyor that offers an alternate view of projects. Within this tool, there are many grouping and viewing options allowing for a better review of the entire project or individual. The tool assembles all amplicons or replicate samples that are aligned to the same reference. It also automatically color codes found variants, indicates contig overlap, displays DNA nucleotide Sequence, Regions of Interest, Coding Regions, sample/patient identifiers, and displays multiple electropherograms.

Figure 1

Project Reviewer: main analysis window showing overlapping amplicons of a single patient with color coding of variants. cDNA numbering is shown with the nucleotide string if it is present in the Reference GenBank or SEQ files. User can customize display by choosing which pane is displayed by using the toolbar at the top of the Project Reviewer.

Figure 2

Project Reviewer showing replicate samples for three different individuals aligning to the same reference. The samples are grouped by patient ID. Variants are detected at the same positions in all 3 patients. Multiple electropherograms can be seen at one time to compare mutation calls between samples. Mutation table at the bottom lists all mutations for the selected patient.

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Mutation Surveyor Capabilities:
Detection Sensitivity & Accuracy
INDEL Detection
INDEL de-Convolution
Somatic Mutation Detection
Mutation Quantification
Methylation Analysis
Hypervariable Region Variant Detection
Reference Assembly
Custom Reporting Options
Alignment of Reads
Mitochondria DNA Sequence Analysis
Base Calling
Unattended Operation 

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