Sequence Assembly
For the genetic analysts working with sequences that do not have genomic references, Mutation Surveyor is a powerful tool capable of taking a group of sequences and assembling them into one long reference file. Just as the shotgun sequencing method, when used to sequence the human genome, required these short sequences to be assembled, many other projects require the same functionality. Mutation Surveyor is capable of assembling sequences of many formats including *ab1, *abi and *scf. The resulting text file containing a single nucleotide text string can then be utilized directly by the software as the reference file or annotated similarly to a GenBank file for identification of the coding sequence, variations and more.
In addition to its short sequence assembly tool, Mutation Surveyor is a powerful genetic analysis package capable of comparing samples to reference sequences and easily finding nucleotide and amino acid variations. All types of single nucleotide polymorphisms (SNPs) including homozygous substitutions, heterozygous substitutions with as little as 5-10% contribution from the minor allele and insertions and deletions (INDELs) can be detected with the click of only a couple of buttons. Mutation Surveyor provides an accuracy >99% in detecting homozygous and heterozygous SNPs when both forward and reverse traces are of Phred 20 quality. In addition, the complex heterozygous INDELs are deconvoluted from each other yielding two clean traces for easy identification of nucleotide variations.
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Mutation Surveyor will assemble overlapping sequences into one sequence text string. As shown in the figure the sample traces used to generate the assembled sequence are aligned properly to the assembled sequence.
Mutation Surveyor has tools to assist in improving the usefulness of the assembled sequence file including defining the coding sequence, setting primer sites, generating regions of interest, and selecting known variations. Assembled sequence files can be annotated to include the coding sequences, regions of interest surrounding each exon and known variations. The *seq file can now be saved as a *gbk file and opened in the GenBank Sequence File field when opening data to process. |
Samples traces overlap at ends and align. These samples were assembled to create a single reference *seq file shown in GenBank window. Within the Sample window, the traces are shown aligned to the reference.
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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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