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Heterozygous DNA INDEL detection and de convolution

Mutation Surveyor software, automatically de-convolutes heterozygous INDELS found in Sanger Sequencing DNA sequence reads into two clean traces for upstream analysis, eliminating the cumbersome hand method of de-convolution. The software is compatible with outputs from all major sequencing systems, MegaBACE, Beckman-Coulter CEQ as well as Applied Biosystems Prism platforms. Mutation Surveyor aligns sample trace to wild type reference, detects presence of Het INDEL, deduces mutant sequence by subtracting reference from sample sequence and then automatically shifts mutant trace to realign with wildtype, providing a clear picture of the Heterozygous Insertion or Deletion in both the forward sequence as well as reverse compliment.

Mutation Surveyor automatically deconvolutes sample traces when a Heterozygous Indel has occurred, shown in the figure. A is the reference trace, and B is the sample trace. The two portions of the convoluted sample trace, the Conserved Sector, C, and the Mutation Sector, D, can be separated into two clean traces following the point of the insertion or deletion. Then the software is able to shift the Mutation Sector D to align with the reference A. The software accurately detects the 19 deleted bases, shown in E and F

A user may add a second heterozygous Indel in addition to the one the software automatically detected. The user may modify the start position, and the software will do the calculation based on user constraints.

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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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