Softgenetics has added a variant scoring system to its Nextgene software to assist researchers and clinicians utilising next-generation sequencing.
According to the company, the scoring system provides a confidence scoring based on multiple factors, such as depth of coverage, directionality balance, homopolymer presence and sequence direction.
The new Nextgene scoring system is applicable to sequences generated by all major second-generation platforms: Illumina GA, Roche Titanium GS and the AB Solid System.
John McGuigan, biologist at Softgenetics, said: 'When analysing next-generation sequencing data, there are many variables that affect the accuracy of mutation calls.
'The level of coverage, the fraction of reads with the mutation and the fraction of reads aligned in the forward or reverse direction are always important.
'The possibility of misalignment as well as potential homopolymer errors in pyrosequencing data also need to be considered.
'This can be overwhelming for large alignments that may generate thousands of potential mutations.
'Considering multiple sources of error at once and generating an overall quality measurement is more useful than considering several aspects individually in an all-or-nothing mutation filter.
'It allows for increased specificity without reducing the sensitivity,' he added.
The Nextgene software is a freestanding, biologist-friendly, Windows-based analysis tool.
It requires no scripting, provides analysis modules for all typical applications and is compatible with data from all major second-generation sequencing platforms.
