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DNA Variant Analysis of Sanger Sequencing Customizable Report Options

Mutation Surveyor, Sequence Analysis Software, provides unique reporting options for Sanger Sequencing of Mitochondria, resequencing, medical sequencing, direct sequencing or PCR sequencing from all major capillary sequencing platforms such as Beckman Coulter CEQ, Applied BioSystems Genetic Analyzer, or MegaBACE systems. The reporting options allow users to quickly meet internal reporting, LIMS, or other database requirements typically not available in alternative software programs such as Sequencher®, DNAStar® or SeqPilot®.

Reporting and organization options include the ability to reorganize sample/patient files, hide variants of non-interest, quickly identity analysis discrepancies, classify variant pathogenicity, organize output and mutation calls by quality score or region of interest, report by preferred nomenclature (Genomic position, cDNA/CDS or HGVS), and these are all exportable in either .txt, excel or .xml formats.

Figure 1: Grouping by Sample ID or Patient ID

Mutation Surveyor software reporting options permit rapid customization to quickly indicate type and pathogenicity of found variants. Samples can be grouped according to many criteria including Amplicon ID . Results can be exported in multiple formats, including xml, xls, and txt.

Analysis Presentation:

Region of Interest and Coding Sequence

The final report can be customized in many different ways in Mutation Surveyor. One of the most frequent ways is to filter by Coding Sequences (CDS) or Regions of Interest (ROI).

Figure 2: Mutation Call Filter

With a simple point and click, users can “zero in” on regions of interest by hiding, not eliminating, mutation calls that fall out of the region of interest. The same can be done for CDS regions. All types of mutations can be filtered in order to best fit the final reporting requirements.

Color Coding

Figure 3: Color Coding Options:


Color-Coding the results allow users to highlight particular variations for easy identification in the report. Color coding can also be applied as text if selected.

Discrepancy Identification

Analysis anomalies are highlighted in yellow for quick identification and review. This indicates that a particular mutation is detected in some samples for a contig but not present in other samples of the same contig. User can easily switch between reports and mutation graphic display for quick review and confirmation by double clicking on the specific variation in the mutation table.

Figure 4: Reviewing Discrepancies


Image is showing a discrepancy highlighted in yellow in the report. Discrepancies can easily be viewed in this manner when one of the consensus Table Format is selected. When double clicked, the software will take the user to the position of interests for review. This simplifies and speeds the reviewing process for large datasets.

Normal Allele Scoring

Mutation Surveyor provides a confidence check on the absence of mutations at each nucleotide greatly assisting in validating analysis results. All scores can be shown in the report by selecting the appropriate options.

Figure 5: Mutation Score

Phred Score: 50
NM_Score: 20.5

High Score
Normal Allele

Phred Score: 20
NM_Score: 1.4

Moderate Score
Heterozygous
Substitution

Phred Score: 51
NM_Score: 0.0

Low Score
Homozygous
Substitution

Phred Score: 11
NM_Score: 5.2

High Score
False Positive

Download Genetic Diversity Application Note

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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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