Software for clinical DNA sequence analysis
SoftGenetics
Mutation Surveyor software
SoftGenetics' latest version of its Mutation Surveyor software uses enhanced technology to bring DNA variant calling from capillary electrophoresis sequences to a higher level by using many 'seeds'.
According to the company, primary advancements include two major algorithm improvements.
These are a reduction in false positive mutation calls in regions of poor dye mobility and a utilisation of 'seed' sequences within each trace to complete the alignment more quickly and effectively, which was originally developed for second-generation sequence alignment in SoftGenetics' NextGENe software.
Previously, Mutation Surveyor determined an initial alignment of a trace to the reference, then extended the alignment from this location.
By switching to using many 'seeds' the alignment can be completed more quickly.
Basecalls are used at the migration time of each peak to fine tune the alignment.
Mutation Surveyor has been validated for use in clinical sequence analysis by the NGRL, UK, and UPMC, Pittsburg PA, and is compatible with the output files of all major capillary electrophoresis systems including ABI Prism, Beckman Coulter CEQ and MegaBACE platforms.
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